Canonical Allele Identifier: CA2317700348

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401261_1401262delinsGC , CM000681.2:g.1401261_1401262delinsGC	GRCh38
NC_000019.9:g.1401260_1401261delinsGC , CM000681.1:g.1401260_1401261delinsGC	GRCh37
NC_000019.8:g.1352260_1352261delinsGC	NCBI36
NG_009785.1:g.5292_5293delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+34_181+35delinsGC MANE Select	ENSP00000252288.1:n.181+34_181+35delinsGC
ENST00000447102.8:c.181+34_181+35delinsGC	ENSP00000403536.2:n.181+34_181+35delinsGC
ENST00000640762.1:c.112+103_112+104delinsGC	ENSP00000492031.1:n.112+103_112+104delinsGC
ENST00000252288.6:c.181+34_181+35delinsGC	ENSP00000252288.1:n.181+34_181+35delinsGC
ENST00000447102.7:c.181+34_181+35delinsGC	ENSP00000403536.2:n.181+34_181+35delinsGC
NM_000156.5:c.181+34_181+35delinsGC	NP_000147.1:n.181+34_181+35delinsGC
NM_138924.2:c.181+34_181+35delinsGC	NP_620279.1:n.181+34_181+35delinsGC
NM_000156.6:c.181+34_181+35delinsGC MANE Select	NP_000147.1:n.181+34_181+35delinsGC
NM_138924.3:c.181+34_181+35delinsGC	NP_620279.1:n.181+34_181+35delinsGC