Canonical Allele Identifier: CA2582641704

Gene: GAMT

Linked Data

• gnomAD v4: 19-1401150-GTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401151_1401153del , CM000681.2:g.1401151_1401153del	GRCh38
NC_000019.9:g.1401150_1401152del , CM000681.1:g.1401150_1401152del	GRCh37
NC_000019.8:g.1352150_1352152del	NCBI36
NG_009785.1:g.5401_5403del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+143_181+145del MANE Select	ENSP00000252288.1:n.181+143_181+145del
ENST00000447102.8:c.181+143_181+145del	ENSP00000403536.2:n.181+143_181+145del
ENST00000640762.1:c.112+212_112+214del	ENSP00000492031.1:n.112+212_112+214del
ENST00000252288.6:c.181+143_181+145del	ENSP00000252288.1:n.181+143_181+145del
ENST00000447102.7:c.181+143_181+145del	ENSP00000403536.2:n.181+143_181+145del
NM_000156.5:c.181+143_181+145del	NP_000147.1:n.181+143_181+145del
NM_138924.2:c.181+143_181+145del	NP_620279.1:n.181+143_181+145del
NM_000156.6:c.181+143_181+145del MANE Select	NP_000147.1:n.181+143_181+145del
NM_138924.3:c.181+143_181+145del	NP_620279.1:n.181+143_181+145del