Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736982_3736983delinsTC , CM000678.2:g.3736982_3736983delinsTC	GRCh38
NC_000016.9:g.3786983_3786984delinsTC , CM000678.1:g.3786983_3786984delinsTC	GRCh37
NC_000016.8:g.3726984_3726985delinsTC	NCBI36
NG_009873.1:g.148138_148139delinsGA
NG_009873.2:g.148731_148732delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-168_4395-167delinsGA MANE Select	ENSP00000262367.5:n.4395-168_4395-167delinsGA
ENST00000262367.9:c.4395-168_4395-167delinsGA	ENSP00000262367.5:n.4395-168_4395-167delinsGA
ENST00000382070.7:c.4281-168_4281-167delinsGA	ENSP00000371502.3:n.4281-168_4281-167delinsGA
ENST00000570939.2:c.3030-168_3030-167delinsGA	ENSP00000461002.2:n.3030-168_3030-167delinsGA
ENST00000571763.5:n.17_18delinsGA
ENST00000574740.1:n.216-168_216-167delinsGA
ENST00000576720.1:n.3218-168_3218-167delinsGA
NM_001079846.1:c.4281-168_4281-167delinsGA	NP_001073315.1:n.4281-168_4281-167delinsGA
NM_004380.2:c.4395-168_4395-167delinsGA	NP_004371.2:n.4395-168_4395-167delinsGA
XM_005255124.3:c.4350-168_4350-167delinsGA	XP_005255181.1:n.4350-168_4350-167delinsGA
XM_005255125.3:c.3978-168_3978-167delinsGA	XP_005255182.1:n.3978-168_3978-167delinsGA
XM_006720848.2:c.4134-168_4134-167delinsGA	XP_006720911.1:n.4134-168_4134-167delinsGA
XM_011522380.1:c.4341-168_4341-167delinsGA	XP_011520682.1:n.4341-168_4341-167delinsGA
XM_011522381.1:c.3642-168_3642-167delinsGA	XP_011520683.1:n.3642-168_3642-167delinsGA
XM_005255124.4:c.4350-168_4350-167delinsGA	XP_005255181.1:n.4350-168_4350-167delinsGA
XM_005255125.4:c.3978-168_3978-167delinsGA	XP_005255182.1:n.3978-168_3978-167delinsGA
XM_006720848.3:c.4134-168_4134-167delinsGA	XP_006720911.1:n.4134-168_4134-167delinsGA
XM_011522381.2:c.3642-168_3642-167delinsGA	XP_011520683.1:n.3642-168_3642-167delinsGA
XM_017022944.1:c.4389-168_4389-167delinsGA	XP_016878433.1:n.4389-168_4389-167delinsGA
NM_004380.3:c.4395-168_4395-167delinsGA MANE Select	NP_004371.2:n.4395-168_4395-167delinsGA