Canonical Allele Identifier: CA969359875

Gene: GATM

Linked Data

• dbSNP Id: rs1889893469
• gnomAD v3: 15-45393503-T-TTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC
• gnomAD v4: 15-45393503-T-TTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393503_45393504insTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC , CM000677.2:g.45393503_45393504insTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC	GRCh38
NC_000015.9:g.45685701_45685702insTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC , CM000677.1:g.45685701_45685702insTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC	GRCh37
NC_000015.8:g.43472993_43472994insTGTACTCTATCTGTGTACCAGCTGTGTACCAGCTAC	NCBI36
NG_011674.2:g.13814_13815insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3418_640+3419insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA
ENST00000527933.2:n.512+2663_512+2664insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA
ENST00000560538.1:n.338+3418_338+3419insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA
ENST00000561148.5:c.-319+3418_-319+3419insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA	ENSP00000453860.1:n.-319+3418_-319+3419insGTAGCTGGTACACAGCTGG...
XM_011521450.1:c.31+3418_31+3419insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA	XP_011519752.1:n.31+3418_31+3419insGTAGCTGGTACACAGCTGGTACACAG...
NM_001321015.1:c.-395+3418_-395+3419insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA	NP_001307944.1:n.-395+3418_-395+3419insGTAGCTGGTACACAGCTGGTAC...
NM_001321015.2:c.-395+3418_-395+3419insGTAGCTGGTACACAGCTGGTACACAGATAGAGTACA	NP_001307944.1:n.-395+3418_-395+3419insGTAGCTGGTACACAGCTGGTAC...