Canonical Allele Identifier: CA5119728

Gene: AUH

Linked Data

• dbSNP Id: rs778245303
• ExAC: 9:93983098 ACT / A
• gnomAD v2: 9-93983098-ACT-A
• MyVariant Identifiers: chr9:g.93983099_93983100del (hg19) ; chr9:g.91220817_91220818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220822_91220823del , CM000671.2:g.91220822_91220823del	GRCh38
NC_000009.11:g.93983104_93983105del , CM000671.1:g.93983104_93983105del	GRCh37
NC_000009.10:g.93022925_93022926del	NCBI36
NG_008017.1:g.146107_146108del , LRG_449:g.146107_146108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.830_831del MANE Select	ENSP00000364883.5:p.Glu277ValfsTer17
ENST00000303617.5:c.743_744del	ENSP00000307334.5:p.Glu248ValfsTer17
ENST00000375731.8:c.830_831del	ENSP00000364883.4:p.Glu277ValfsTer17
ENST00000473695.1:n.102_103del
NM_001306190.1:c.743_744del	NP_001293119.1:p.Glu248ValfsTer17
NM_001698.2:c.830_831del , LRG_449t1:c.830_831del	NP_001689.1:p.Glu277ValfsTer17
XM_005252066.2:c.860_861del	XP_005252123.1:p.Glu287ValfsTer17
XM_005252067.3:c.860_861del	XP_005252124.1:p.Glu287ValfsTer17
XM_005252069.3:c.860_861del	XP_005252126.1:p.Glu287ValfsTer?
XM_005252073.2:c.368_369del	XP_005252130.1:p.Glu123ValfsTer17
XM_006717150.2:c.773_774del	XP_006717213.1:p.Glu258ValfsTer17
XM_011518801.1:c.506_507del	XP_011517103.1:p.Glu169ValfsTer17
XM_011518802.1:c.503_504del	XP_011517104.1:p.Glu168ValfsTer17
NM_001351431.1:c.503_504del	NP_001338360.1:p.Glu168ValfsTer17
NM_001351432.1:c.503_504del	NP_001338361.1:p.Glu168ValfsTer17
NM_001351433.1:c.503_504del	NP_001338362.1:p.Glu168ValfsTer17
XM_005252066.3:c.860_861del	XP_005252123.1:p.Glu287ValfsTer17
XM_005252067.4:c.860_861del	XP_005252124.1:p.Glu287ValfsTer17
XM_005252069.4:c.860_861del	XP_005252126.1:p.Glu287ValfsTer?
XM_006717150.3:c.773_774del	XP_006717213.1:p.Glu258ValfsTer17
XM_017014849.1:c.830_831del	XP_016870338.1:p.Glu277ValfsTer17
XR_001746328.2:n.1055_1056del
XR_001746329.2:n.1007_1008del
NM_001698.3:c.830_831del MANE Select	NP_001689.1:p.Glu277ValfsTer17
NM_001306190.2:c.743_744del	NP_001293119.1:p.Glu248ValfsTer17
NM_001351431.2:c.503_504del	NP_001338360.1:p.Glu168ValfsTer17
NM_001351432.2:c.503_504del	NP_001338361.1:p.Glu168ValfsTer17
NM_001351433.2:c.503_504del	NP_001338362.1:p.Glu168ValfsTer17