Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.8737400_8737401insTGA , CM000682.2:g.8737400_8737401insTGA	GRCh38
NC_000020.10:g.8718047_8718048insTGA , CM000682.1:g.8718047_8718048insTGA	GRCh37
NC_000020.9:g.8666047_8666048insTGA	NCBI36
NG_028168.1:g.609752_609753insTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338037.11:c.2208+208_2208+209insTGA MANE Select	ENSP00000338185.6:n.2208+208_2208+209insTGA
ENST00000635830.1:n.2279+208_2279+209insTGA
ENST00000636825.1:n.2072+208_2072+209insTGA
ENST00000637919.1:c.1905+208_1905+209insTGA	ENSP00000490862.1:n.1905+208_1905+209insTGA
ENST00000338037.10:c.2208+208_2208+209insTGA	ENSP00000338185.6:n.2208+208_2208+209insTGA
ENST00000378637.6:c.2208+208_2208+209insTGA	ENSP00000367904.2:n.2208+208_2208+209insTGA
ENST00000378641.7:c.2208+208_2208+209insTGA	ENSP00000367908.3:n.2208+208_2208+209insTGA
ENST00000439627.2:c.165+208_165+209insTGA	ENSP00000391162.1:n.165+208_165+209insTGA
ENST00000487210.5:c.1430+208_1430+209insTGA
ENST00000494924.2:n.1360+208_1360+209insTGA
ENST00000612075.4:c.1968+208_1968+209insTGA	ENSP00000479997.1:n.1968+208_1968+209insTGA
ENST00000617005.4:c.1968+208_1968+209insTGA	ENSP00000477664.1:n.1968+208_1968+209insTGA
ENST00000625874.2:c.1905+208_1905+209insTGA	ENSP00000486301.1:n.1905+208_1905+209insTGA
ENST00000626966.2:c.1905+208_1905+209insTGA	ENSP00000487075.1:n.1905+208_1905+209insTGA
NM_015192.3:c.2208+208_2208+209insTGA	NP_056007.1:n.2208+208_2208+209insTGA
NM_182734.2:c.2208+208_2208+209insTGA	NP_877398.1:n.2208+208_2208+209insTGA
XM_011529199.1:c.2208+208_2208+209insTGA	XP_011527501.1:n.2208+208_2208+209insTGA
XM_011529200.1:c.1992+208_1992+209insTGA	XP_011527502.1:n.1992+208_1992+209insTGA
XM_011529201.1:c.1905+208_1905+209insTGA	XP_011527503.1:n.1905+208_1905+209insTGA
XM_011529203.1:c.435+208_435+209insTGA	XP_011527505.1:n.435+208_435+209insTGA
NM_015192.4:c.2208+208_2208+209insTGA MANE Select	NP_056007.1:n.2208+208_2208+209insTGA
NM_182734.3:c.2208+208_2208+209insTGA	NP_877398.1:n.2208+208_2208+209insTGA