Canonical Allele Identifier: CA2576548756
Gene: GAMT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401213del , CM000681.2:g.1401213del GRCh38
NC_000019.9:g.1401212del , CM000681.1:g.1401212del GRCh37
NC_000019.8:g.1352212del NCBI36
NG_009785.1:g.5343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+85del MANE Select ENSP00000252288.1:n.181+85del
ENST00000447102.8:c.181+85del ENSP00000403536.2:n.181+85del
ENST00000640762.1:c.112+154del ENSP00000492031.1:n.112+154del
ENST00000252288.6:c.181+85del ENSP00000252288.1:n.181+85del
ENST00000447102.7:c.181+85del ENSP00000403536.2:n.181+85del
NM_000156.5:c.181+85del NP_000147.1:n.181+85del
NM_138924.2:c.181+85del NP_620279.1:n.181+85del
NM_000156.6:c.181+85del MANE Select NP_000147.1:n.181+85del
NM_138924.3:c.181+85del NP_620279.1:n.181+85del
Search 100 bp 5'
Search 100 bp 3'