Canonical Allele Identifier: CA2317700332

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401238_1401239delinsGC , CM000681.2:g.1401238_1401239delinsGC	GRCh38
NC_000019.9:g.1401237_1401238delinsGC , CM000681.1:g.1401237_1401238delinsGC	GRCh37
NC_000019.8:g.1352237_1352238delinsGC	NCBI36
NG_009785.1:g.5315_5316delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+57_181+58delinsGC MANE Select	ENSP00000252288.1:n.181+57_181+58delinsGC
ENST00000447102.8:c.181+57_181+58delinsGC	ENSP00000403536.2:n.181+57_181+58delinsGC
ENST00000640762.1:c.112+126_112+127delinsGC	ENSP00000492031.1:n.112+126_112+127delinsGC
ENST00000252288.6:c.181+57_181+58delinsGC	ENSP00000252288.1:n.181+57_181+58delinsGC
ENST00000447102.7:c.181+57_181+58delinsGC	ENSP00000403536.2:n.181+57_181+58delinsGC
NM_000156.5:c.181+57_181+58delinsGC	NP_000147.1:n.181+57_181+58delinsGC
NM_138924.2:c.181+57_181+58delinsGC	NP_620279.1:n.181+57_181+58delinsGC
NM_000156.6:c.181+57_181+58delinsGC MANE Select	NP_000147.1:n.181+57_181+58delinsGC
NM_138924.3:c.181+57_181+58delinsGC	NP_620279.1:n.181+57_181+58delinsGC