Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438756_235438762delinsCACATGA , CM000663.2:g.235438756_235438762delinsCACATGA	GRCh38
NC_000001.10:g.235602071_235602077delinsCACATGA , CM000663.1:g.235602071_235602077delinsCACATGA	GRCh37
NC_000001.9:g.233668694_233668700delinsCACATGA	NCBI36
NG_009230.1:g.76344_76350delinsCACATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.928-13_928-7delinsCACATGA	ENSP00000355560.4:n.928-13_928-7delinsCACATGA
ENST00000406207.5:c.1117-13_1117-7delinsCACATGA	ENSP00000384571.1:n.1117-13_1117-7delinsCACATGA
ENST00000472011.6:n.1841-13_1841-7delinsCACATGA
ENST00000543662.4:c.1270-13_1270-7delinsCACATGA	ENSP00000439170.1:n.1270-13_1270-7delinsCACATGA
ENST00000642339.1:c.814-13_814-7delinsCACATGA	ENSP00000495425.1:n.814-13_814-7delinsCACATGA
ENST00000642431.1:c.1694-13_1694-7delinsCACATGA
ENST00000642463.1:c.1015-13_1015-7delinsCACATGA	ENSP00000495007.1:n.1015-13_1015-7delinsCACATGA
ENST00000642503.1:c.891-13_891-7delinsCACATGA	ENSP00000494334.1:n.891-13_891-7delinsCACATGA
ENST00000642610.2:c.1117-13_1117-7delinsCACATGA MANE Select	ENSP00000494796.1:n.1117-13_1117-7delinsCACATGA
ENST00000642764.1:n.1948-13_1948-7delinsCACATGA
ENST00000643125.1:c.132-13_132-7delinsCACATGA	ENSP00000494102.1:n.132-13_132-7delinsCACATGA
ENST00000643142.1:c.608-13_608-7delinsCACATGA	ENSP00000494755.1:n.608-13_608-7delinsCACATGA
ENST00000643238.1:c.137-13_137-7delinsCACATGA	ENSP00000495916.1:n.137-13_137-7delinsCACATGA
ENST00000643410.1:c.407-13_407-7delinsCACATGA	ENSP00000495030.1:n.407-13_407-7delinsCACATGA
ENST00000643487.1:n.1804-13_1804-7delinsCACATGA
ENST00000643524.1:c.702-13_702-7delinsCACATGA	ENSP00000494026.1:n.702-13_702-7delinsCACATGA
ENST00000643615.1:c.1116+1282_1116+1288delinsCACATGA	ENSP00000496103.1:n.1116+1282_1116+1288delinsCACATGA
ENST00000643993.1:n.1253-13_1253-7delinsCACATGA
ENST00000643994.1:c.1117-13_1117-7delinsCACATGA	ENSP00000496322.1:n.1117-13_1117-7delinsCACATGA
ENST00000644037.1:c.1327-13_1327-7delinsCACATGA	ENSP00000496408.1:n.1327-13_1327-7delinsCACATGA
ENST00000644055.1:c.1742-13_1742-7delinsCACATGA	ENSP00000496307.1:n.1742-13_1742-7delinsCACATGA
ENST00000644126.1:n.2789-13_2789-7delinsCACATGA
ENST00000644217.1:c.1117-13_1117-7delinsCACATGA	ENSP00000494646.1:n.1117-13_1117-7delinsCACATGA
ENST00000644265.1:c.486-13_486-7delinsCACATGA
ENST00000644578.1:c.931-13_931-7delinsCACATGA	ENSP00000495953.1:n.931-13_931-7delinsCACATGA
ENST00000644604.1:c.1117-13_1117-7delinsCACATGA	ENSP00000495961.1:n.1117-13_1117-7delinsCACATGA
ENST00000644680.1:c.1638-13_1638-7delinsCACATGA	ENSP00000496173.1:n.1638-13_1638-7delinsCACATGA
ENST00000644838.1:c.500-13_500-7delinsCACATGA	ENSP00000495910.1:n.500-13_500-7delinsCACATGA
ENST00000644910.1:c.1724-13_1724-7delinsCACATGA
ENST00000645205.1:c.1117-13_1117-7delinsCACATGA	ENSP00000495823.1:n.1117-13_1117-7delinsCACATGA
ENST00000645351.1:c.1117-13_1117-7delinsCACATGA	ENSP00000494319.1:n.1117-13_1117-7delinsCACATGA
ENST00000645551.1:c.834-13_834-7delinsCACATGA	ENSP00000495928.1:n.834-13_834-7delinsCACATGA
ENST00000645578.1:c.891-13_891-7delinsCACATGA	ENSP00000496495.1:n.891-13_891-7delinsCACATGA
ENST00000645582.1:c.947-13_947-7delinsCACATGA	ENSP00000494980.1:n.947-13_947-7delinsCACATGA
ENST00000645655.1:c.1117-13_1117-7delinsCACATGA	ENSP00000495202.1:n.1117-13_1117-7delinsCACATGA
ENST00000645662.1:c.576-13_576-7delinsCACATGA	ENSP00000495964.1:n.576-13_576-7delinsCACATGA
ENST00000645836.1:c.891-13_891-7delinsCACATGA	ENSP00000493915.1:n.891-13_891-7delinsCACATGA
ENST00000645899.1:c.1117-13_1117-7delinsCACATGA	ENSP00000496773.1:n.1117-13_1117-7delinsCACATGA
ENST00000645964.1:c.983-13_983-7delinsCACATGA	ENSP00000494208.1:n.983-13_983-7delinsCACATGA
ENST00000646104.1:c.1585-13_1585-7delinsCACATGA	ENSP00000495475.1:n.1585-13_1585-7delinsCACATGA
ENST00000646186.1:c.789-13_789-7delinsCACATGA	ENSP00000493806.1:n.789-13_789-7delinsCACATGA
ENST00000646286.1:c.1010-13_1010-7delinsCACATGA	ENSP00000494291.1:n.1010-13_1010-7delinsCACATGA
ENST00000646463.1:c.882-13_882-7delinsCACATGA	ENSP00000494541.1:n.882-13_882-7delinsCACATGA
ENST00000646528.1:c.1833-13_1833-7delinsCACATGA	ENSP00000496553.1:n.1833-13_1833-7delinsCACATGA
ENST00000646536.1:c.407-13_407-7delinsCACATGA	ENSP00000494801.1:n.407-13_407-7delinsCACATGA
ENST00000646624.1:c.1117-13_1117-7delinsCACATGA	ENSP00000494575.1:n.1117-13_1117-7delinsCACATGA
ENST00000646821.1:c.407-13_407-7delinsCACATGA	ENSP00000495257.1:n.407-13_407-7delinsCACATGA
ENST00000646842.1:n.561-13_561-7delinsCACATGA
ENST00000646848.1:c.332-13_332-7delinsCACATGA	ENSP00000495831.1:n.332-13_332-7delinsCACATGA
ENST00000647186.1:c.1117-13_1117-7delinsCACATGA	ENSP00000494775.1:n.1117-13_1117-7delinsCACATGA
ENST00000647233.1:n.2097-13_2097-7delinsCACATGA
ENST00000647322.1:c.708-13_708-7delinsCACATGA
ENST00000647418.1:c.891-13_891-7delinsCACATGA	ENSP00000493552.1:n.891-13_891-7delinsCACATGA
ENST00000647428.1:c.778-13_778-7delinsCACATGA	ENSP00000495630.1:n.778-13_778-7delinsCACATGA
ENST00000651186.1:c.778-13_778-7delinsCACATGA	ENSP00000498645.1:n.778-13_778-7delinsCACATGA
ENST00000366601.7:c.1117-13_1117-7delinsCACATGA	ENSP00000355560.3:n.1117-13_1117-7delinsCACATGA
ENST00000406207.4:c.1117-13_1117-7delinsCACATGA	ENSP00000384571.1:n.1117-13_1117-7delinsCACATGA
ENST00000472011.5:n.1169-13_1169-7delinsCACATGA
ENST00000543662.3:c.1270-13_1270-7delinsCACATGA	ENSP00000439170.1:n.1270-13_1270-7delinsCACATGA
NM_001079515.2:c.1117-13_1117-7delinsCACATGA	NP_001072983.1:n.1117-13_1117-7delinsCACATGA
NM_001287801.1:c.1270-13_1270-7delinsCACATGA	NP_001274730.1:n.1270-13_1270-7delinsCACATGA
NM_001287802.1:c.778-13_778-7delinsCACATGA	NP_001274731.1:n.778-13_778-7delinsCACATGA
NM_003193.4:c.1117-13_1117-7delinsCACATGA	NP_003184.1:n.1117-13_1117-7delinsCACATGA
NM_003193.5:c.1117-13_1117-7delinsCACATGA MANE Select	NP_003184.1:n.1117-13_1117-7delinsCACATGA
NM_001079515.3:c.1117-13_1117-7delinsCACATGA	NP_001072983.1:n.1117-13_1117-7delinsCACATGA
NM_001287801.2:c.1270-13_1270-7delinsCACATGA	NP_001274730.1:n.1270-13_1270-7delinsCACATGA
NM_001287802.2:c.778-13_778-7delinsCACATGA	NP_001274731.1:n.778-13_778-7delinsCACATGA