Canonical Allele Identifier: CA2317700351
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401266_1401267delinsCG , CM000681.2:g.1401266_1401267delinsCG GRCh38
NC_000019.9:g.1401265_1401266delinsCG , CM000681.1:g.1401265_1401266delinsCG GRCh37
NC_000019.8:g.1352265_1352266delinsCG NCBI36
NG_009785.1:g.5287_5288delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+29_181+30delinsCG MANE Select ENSP00000252288.1:n.181+29_181+30delinsCG
ENST00000447102.8:c.181+29_181+30delinsCG ENSP00000403536.2:n.181+29_181+30delinsCG
ENST00000640762.1:c.112+98_112+99delinsCG ENSP00000492031.1:n.112+98_112+99delinsCG
ENST00000252288.6:c.181+29_181+30delinsCG ENSP00000252288.1:n.181+29_181+30delinsCG
ENST00000447102.7:c.181+29_181+30delinsCG ENSP00000403536.2:n.181+29_181+30delinsCG
NM_000156.5:c.181+29_181+30delinsCG NP_000147.1:n.181+29_181+30delinsCG
NM_138924.2:c.181+29_181+30delinsCG NP_620279.1:n.181+29_181+30delinsCG
NM_000156.6:c.181+29_181+30delinsCG MANE Select NP_000147.1:n.181+29_181+30delinsCG
NM_138924.3:c.181+29_181+30delinsCG NP_620279.1:n.181+29_181+30delinsCG
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