Canonical Allele Identifier: CA2317699510
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399818_1399819delinsTC , CM000681.2:g.1399818_1399819delinsTC GRCh38
NC_000019.9:g.1399817_1399818delinsTC , CM000681.1:g.1399817_1399818delinsTC GRCh37
NC_000019.8:g.1350817_1350818delinsTC NCBI36
NG_009785.1:g.6735_6736delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.301_302delinsGA MANE Select ENSP00000252288.1:p.Asp101=
ENST00000447102.8:c.301_302delinsGA ENSP00000403536.2:p.Asp101=
ENST00000640762.1:c.232_233delinsGA ENSP00000492031.1:p.Asp78=
ENST00000252288.6:c.301_302delinsGA ENSP00000252288.1:p.Asp101=
ENST00000447102.7:c.301_302delinsGA ENSP00000403536.2:p.Asp101=
NM_000156.5:c.301_302delinsGA NP_000147.1:p.Asp101=
NM_138924.2:c.301_302delinsGA NP_620279.1:p.Asp101=
NM_000156.6:c.301_302delinsGA MANE Select NP_000147.1:p.Asp101=
NM_138924.3:c.301_302delinsGA NP_620279.1:p.Asp101=