Canonical Allele Identifier: CA2317699170
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399239_1399249delinsCGCCTCACCCA , CM000681.2:g.1399239_1399249delinsCGCCTCACCCA GRCh38
NC_000019.9:g.1399238_1399248delinsCGCCTCACCCA , CM000681.1:g.1399238_1399248delinsCGCCTCACCCA GRCh37
NC_000019.8:g.1350238_1350248delinsCGCCTCACCCA NCBI36
NG_009785.1:g.7305_7315delinsTGGGTGAGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-54_392-44delinsTGGGTGAGGCG MANE Select ENSP00000252288.1:n.392-54_392-44delinsTGGGTGAGGCG
ENST00000447102.8:c.392-54_392-44delinsTGGGTGAGGCG ENSP00000403536.2:n.392-54_392-44delinsTGGGTGAGGCG
ENST00000591788.3:c.75-54_75-44delinsTGGGTGAGGCG
ENST00000640164.1:n.225-54_225-44delinsTGGGTGAGGCG
ENST00000640762.1:c.323-54_323-44delinsTGGGTGAGGCG ENSP00000492031.1:n.323-54_323-44delinsTGGGTGAGGCG
ENST00000252288.6:c.392-54_392-44delinsTGGGTGAGGCG ENSP00000252288.1:n.392-54_392-44delinsTGGGTGAGGCG
ENST00000447102.7:c.392-54_392-44delinsTGGGTGAGGCG ENSP00000403536.2:n.392-54_392-44delinsTGGGTGAGGCG
ENST00000591788.2:c.77-54_77-44delinsTGGGTGAGGCG ENSP00000466341.2:n.77-54_77-44delinsTGGGTGAGGCG
NM_000156.5:c.392-54_392-44delinsTGGGTGAGGCG NP_000147.1:n.392-54_392-44delinsTGGGTGAGGCG
NM_138924.2:c.392-54_392-44delinsTGGGTGAGGCG NP_620279.1:n.392-54_392-44delinsTGGGTGAGGCG
NM_000156.6:c.392-54_392-44delinsTGGGTGAGGCG MANE Select NP_000147.1:n.392-54_392-44delinsTGGGTGAGGCG
NM_138924.3:c.392-54_392-44delinsTGGGTGAGGCG NP_620279.1:n.392-54_392-44delinsTGGGTGAGGCG
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