Canonical Allele Identifier: CA913184903

Gene: AUH

Linked Data

• dbSNP Id: rs1411001024
• gnomAD v4: 9-91361710-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91361715del , CM000671.2:g.91361715del	GRCh38
NC_000009.11:g.94123997del , CM000671.1:g.94123997del	GRCh37
NC_000009.10:g.93163818del	NCBI36
NG_008017.1:g.5214del , LRG_449:g.5214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.179del MANE Select	ENSP00000364883.5:p.Gly60ValfsTer12
ENST00000303617.5:c.179del	ENSP00000307334.5:p.Gly60ValfsTer12
ENST00000375731.8:c.179del	ENSP00000364883.4:p.Gly60ValfsTer12
ENST00000478465.5:n.177del
NM_001306190.1:c.179del	NP_001293119.1:p.Gly60ValfsTer12
NM_001698.2:c.179del , LRG_449t1:c.179del	NP_001689.1:p.Gly60ValfsTer12
XM_005252066.2:c.179del	XP_005252123.1:p.Gly60ValfsTer12
XM_005252067.3:c.179del	XP_005252124.1:p.Gly60ValfsTer12
XM_005252069.3:c.179del	XP_005252126.1:p.Gly60ValfsTer12
XM_005252072.1:c.179del	XP_005252129.1:p.Gly60ValfsTer12
XM_006717150.2:c.179del	XP_006717213.1:p.Gly60ValfsTer12
XM_011518800.1:c.179del	XP_011517102.1:p.Gly60ValfsTer12
XM_011518802.1:c.-219del	XP_011517104.1:n.-219del
XM_011518803.1:c.179del	XP_011517105.1:p.Gly60ValfsTer12
XM_011518804.1:c.179del	XP_011517106.1:p.Gly60ValfsTer12
XR_929814.1:n.229del
NM_001351431.1:c.-219del	NP_001338360.1:n.-219del
NM_001351432.1:c.-311del	NP_001338361.1:n.-311del
NM_001351433.1:c.-219del	NP_001338362.1:n.-219del
XM_005252066.3:c.179del	XP_005252123.1:p.Gly60ValfsTer12
XM_005252067.4:c.179del	XP_005252124.1:p.Gly60ValfsTer12
XM_005252069.4:c.179del	XP_005252126.1:p.Gly60ValfsTer12
XM_005252072.2:c.179del	XP_005252129.1:p.Gly60ValfsTer12
XM_006717150.3:c.179del	XP_006717213.1:p.Gly60ValfsTer12
XM_011518800.3:c.179del	XP_011517102.1:p.Gly60ValfsTer12
XM_011518803.2:c.179del	XP_011517105.1:p.Gly60ValfsTer12
XM_017014849.1:c.179del	XP_016870338.1:p.Gly60ValfsTer12
XR_001746328.2:n.232del
XR_001746329.2:n.214del
NM_001698.3:c.179del MANE Select	NP_001689.1:p.Gly60ValfsTer12
NM_001306190.2:c.179del	NP_001293119.1:p.Gly60ValfsTer12
NM_001351431.2:c.-219del	NP_001338360.1:n.-219del
NM_001351432.2:c.-311del	NP_001338361.1:n.-311del
NM_001351433.2:c.-219del	NP_001338362.1:n.-219del