Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026871del , CM000665.2:g.49026871del	GRCh38
NC_000003.11:g.49064304del , CM000665.1:g.49064304del	GRCh37
NC_000003.10:g.49039308del	NCBI36
NG_012091.1:g.7572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2675del	ENSP00000515567.1:p.Val892GlufsTer16
ENST00000703937.1:c.*1736del	ENSP00000515568.1:n.*1736del
ENST00000326739.9:c.635del MANE Select	ENSP00000321584.4:p.Val212GlufsTer16
ENST00000429182.6:c.635del	ENSP00000393525.2:p.Val212GlufsTer16
ENST00000442157.2:c.560del	ENSP00000403502.2:p.Val187GlufsTer16
ENST00000462980.2:n.1150del
ENST00000472328.2:n.701del
ENST00000491610.2:n.595del
ENST00000676607.1:n.931del
ENST00000676627.1:n.1365del
ENST00000676708.1:n.1915del
ENST00000676864.1:n.1784del
ENST00000677010.1:c.671del	ENSP00000503089.1:p.Val224GlufsTer16
ENST00000677108.1:n.2541del
ENST00000677168.1:n.1107del
ENST00000677185.1:n.1198del
ENST00000677205.1:n.1419del
ENST00000677344.1:n.1909del
ENST00000677480.1:c.*312del	ENSP00000504378.1:n.*312del
ENST00000677519.1:n.1345del
ENST00000677593.1:n.1191del
ENST00000677740.1:n.2140del
ENST00000677991.1:n.1808del
ENST00000678001.1:n.1128del
ENST00000678085.1:n.1191del
ENST00000678177.1:n.2484del
ENST00000678603.1:n.1713del
ENST00000678724.1:c.560del	ENSP00000503874.1:p.Val187GlufsTer16
ENST00000678920.1:n.793del
ENST00000679019.1:n.1405del
ENST00000679117.1:c.*450del	ENSP00000503240.1:n.*450del
ENST00000679339.1:n.1476del
ENST00000326739.8:c.635del	ENSP00000321584.4:p.Val212GlufsTer16
ENST00000429182.5:c.429del
ENST00000442157.1:c.560del	ENSP00000403502.1:p.Val187GlufsTer16
ENST00000462980.1:n.537del
ENST00000491610.1:n.595del
NM_000884.2:c.635del	NP_000875.2:p.Val212GlufsTer16
XM_006713128.2:c.845del	XP_006713191.1:p.Val282GlufsTer16
XM_006713128.3:c.845del	XP_006713191.1:p.Val282GlufsTer16
XM_017006349.1:c.770del	XP_016861838.1:p.Val257GlufsTer16
XM_017006350.1:c.770del	XP_016861839.1:p.Val257GlufsTer16
NM_000884.3:c.635del MANE Select	NP_000875.2:p.Val212GlufsTer16