Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594502_156594503delinsGA , CM000667.2:g.156594502_156594503delinsGA	GRCh38
NC_000005.9:g.156021512_156021513delinsGA , CM000667.1:g.156021512_156021513delinsGA	GRCh37
NC_000005.8:g.155954090_155954091delinsGA	NCBI36
NG_008693.2:g.729159_729160delinsGA , LRG_205:g.729159_729160delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.383-430_383-429delinsGA MANE Select	ENSP00000338343.4:n.383-430_383-429delinsGA
ENST00000337851.8:c.383-430_383-429delinsGA	ENSP00000338343.4:n.383-430_383-429delinsGA
ENST00000435422.7:c.380-430_380-429delinsGA	ENSP00000403003.2:n.380-430_380-429delinsGA
ENST00000517913.5:c.383-430_383-429delinsGA	ENSP00000429378.1:n.383-430_383-429delinsGA
NM_000337.5:c.383-430_383-429delinsGA , LRG_205t1:c.383-430_383-429delinsGA	NP_000328.2:n.383-430_383-429delinsGA
NM_001128209.1:c.380-430_380-429delinsGA	NP_001121681.1:n.380-430_380-429delinsGA
NM_172244.2:c.383-430_383-429delinsGA	NP_758447.1:n.383-430_383-429delinsGA
XM_005265966.3:c.383-430_383-429delinsGA	XP_005266023.1:n.383-430_383-429delinsGA
XM_005265967.1:c.383-430_383-429delinsGA	XP_005266024.1:n.383-430_383-429delinsGA
XM_006714911.2:c.383-430_383-429delinsGA	XP_006714974.1:n.383-430_383-429delinsGA
XM_011534621.1:c.380-430_380-429delinsGA	XP_011532923.1:n.380-430_380-429delinsGA
XM_005265966.5:c.383-430_383-429delinsGA	XP_005266023.1:n.383-430_383-429delinsGA
XM_005265967.2:c.383-430_383-429delinsGA	XP_005266024.1:n.383-430_383-429delinsGA
XM_011534621.2:c.380-430_380-429delinsGA	XP_011532923.1:n.380-430_380-429delinsGA
XM_017009723.2:c.383-430_383-429delinsGA	XP_016865212.1:n.383-430_383-429delinsGA
XM_017009724.1:c.383-430_383-429delinsGA	XP_016865213.1:n.383-430_383-429delinsGA
NM_001128209.2:c.380-430_380-429delinsGA	NP_001121681.1:n.380-430_380-429delinsGA
NM_172244.3:c.383-430_383-429delinsGA	NP_758447.1:n.383-430_383-429delinsGA
NM_000337.6:c.383-430_383-429delinsGA MANE Select	NP_000328.2:n.383-430_383-429delinsGA