Canonical Allele Identifier: CA2838629556

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401265_1401266del , CM000681.2:g.1401265_1401266del	GRCh38
NC_000019.9:g.1401264_1401265del , CM000681.1:g.1401264_1401265del	GRCh37
NC_000019.8:g.1352264_1352265del	NCBI36
NG_009785.1:g.5291_5292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+33_181+34del MANE Select	ENSP00000252288.1:n.181+33_181+34del
ENST00000447102.8:c.181+33_181+34del	ENSP00000403536.2:n.181+33_181+34del
ENST00000640762.1:c.112+102_112+103del	ENSP00000492031.1:n.112+102_112+103del
ENST00000252288.6:c.181+33_181+34del	ENSP00000252288.1:n.181+33_181+34del
ENST00000447102.7:c.181+33_181+34del	ENSP00000403536.2:n.181+33_181+34del
NM_000156.5:c.181+33_181+34del	NP_000147.1:n.181+33_181+34del
NM_138924.2:c.181+33_181+34del	NP_620279.1:n.181+33_181+34del
NM_000156.6:c.181+33_181+34del MANE Select	NP_000147.1:n.181+33_181+34del
NM_138924.3:c.181+33_181+34del	NP_620279.1:n.181+33_181+34del