Canonical Allele Identifier: CA2582641791

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401217-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401220_1401221del , CM000681.2:g.1401220_1401221del	GRCh38
NC_000019.9:g.1401219_1401220del , CM000681.1:g.1401219_1401220del	GRCh37
NC_000019.8:g.1352219_1352220del	NCBI36
NG_009785.1:g.5335_5336del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+77_181+78del MANE Select	ENSP00000252288.1:n.181+77_181+78del
ENST00000447102.8:c.181+77_181+78del	ENSP00000403536.2:n.181+77_181+78del
ENST00000640762.1:c.112+146_112+147del	ENSP00000492031.1:n.112+146_112+147del
ENST00000252288.6:c.181+77_181+78del	ENSP00000252288.1:n.181+77_181+78del
ENST00000447102.7:c.181+77_181+78del	ENSP00000403536.2:n.181+77_181+78del
NM_000156.5:c.181+77_181+78del	NP_000147.1:n.181+77_181+78del
NM_138924.2:c.181+77_181+78del	NP_620279.1:n.181+77_181+78del
NM_000156.6:c.181+77_181+78del MANE Select	NP_000147.1:n.181+77_181+78del
NM_138924.3:c.181+77_181+78del	NP_620279.1:n.181+77_181+78del