Canonical Allele Identifier: CA2317700363
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401286_1401287delinsCG , CM000681.2:g.1401286_1401287delinsCG GRCh38
NC_000019.9:g.1401285_1401286delinsCG , CM000681.1:g.1401285_1401286delinsCG GRCh37
NC_000019.8:g.1352285_1352286delinsCG NCBI36
NG_009785.1:g.5267_5268delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+9_181+10delinsCG MANE Select ENSP00000252288.1:n.181+9_181+10delinsCG
ENST00000447102.8:c.181+9_181+10delinsCG ENSP00000403536.2:n.181+9_181+10delinsCG
ENST00000640762.1:c.112+78_112+79delinsCG ENSP00000492031.1:n.112+78_112+79delinsCG
ENST00000252288.6:c.181+9_181+10delinsCG ENSP00000252288.1:n.181+9_181+10delinsCG
ENST00000447102.7:c.181+9_181+10delinsCG ENSP00000403536.2:n.181+9_181+10delinsCG
NM_000156.5:c.181+9_181+10delinsCG NP_000147.1:n.181+9_181+10delinsCG
NM_138924.2:c.181+9_181+10delinsCG NP_620279.1:n.181+9_181+10delinsCG
NM_000156.6:c.181+9_181+10delinsCG MANE Select NP_000147.1:n.181+9_181+10delinsCG
NM_138924.3:c.181+9_181+10delinsCG NP_620279.1:n.181+9_181+10delinsCG