Canonical Allele Identifier: CA1057402235

Gene: AHSG

Linked Data

• gnomAD v3: 3-186620636-A-ACCCAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACC
• gnomAD v4: 3-186620636-A-ACCCAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620639_186620640insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC , CM000665.2:g.186620639_186620640insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	GRCh38
NC_000003.11:g.186338428_186338429insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC , CM000665.1:g.186338428_186338429insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	GRCh37
NC_000003.10:g.187821122_187821123insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NCBI36
NG_011436.1:g.12579_12580insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.813_814insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC MANE Select	ENSP00000393887.2:p.Val272ArgfsTer?
ENST00000273784.5:c.816_817insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	ENSP00000273784.5:p.Val273ArgfsTer?
ENST00000411641.6:c.813_814insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	ENSP00000393887.2:p.Val272ArgfsTer?
NM_001622.2:c.813_814insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001613.2:p.Val272ArgfsTer?
NM_001354571.1:c.816_817insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001341500.1:p.Val273ArgfsTer?
NM_001354572.1:c.810_811insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001341501.1:p.Val271ArgfsTer?
NM_001354573.1:c.729_730insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001341502.1:p.Val244ArgfsTer?
NM_001622.3:c.813_814insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001613.2:p.Val272ArgfsTer?
NM_001622.4:c.813_814insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC MANE Select	NP_001613.2:p.Val272ArgfsTer?
NM_001354571.2:c.816_817insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001341500.1:p.Val273ArgfsTer?
NM_001354572.2:c.810_811insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001341501.1:p.Val271ArgfsTer?
NM_001354573.2:c.729_730insAGATGCACCTCCGTCCCCTCCACTCAGTCCCCACCCCC	NP_001341502.1:p.Val244ArgfsTer?