Canonical Allele Identifier: CA2317700390
Gene: GAMT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401322_1401323delinsGC , CM000681.2:g.1401322_1401323delinsGC GRCh38
NC_000019.9:g.1401321_1401322delinsGC , CM000681.1:g.1401321_1401322delinsGC GRCh37
NC_000019.8:g.1352321_1352322delinsGC NCBI36
NG_009785.1:g.5231_5232delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.154_155delinsGC MANE Select ENSP00000252288.1:p.Ala52=
ENST00000447102.8:c.154_155delinsGC ENSP00000403536.2:p.Ala52=
ENST00000640762.1:c.112+42_112+43delinsGC ENSP00000492031.1:n.112+42_112+43delinsGC
ENST00000252288.6:c.154_155delinsGC ENSP00000252288.1:p.Ala52=
ENST00000447102.7:c.154_155delinsGC ENSP00000403536.2:p.Ala52=
NM_000156.5:c.154_155delinsGC NP_000147.1:p.Ala52=
NM_138924.2:c.154_155delinsGC NP_620279.1:p.Ala52=
NM_000156.6:c.154_155delinsGC MANE Select NP_000147.1:p.Ala52=
NM_138924.3:c.154_155delinsGC NP_620279.1:p.Ala52=
Search 100 bp 5'
Search 100 bp 3'