Canonical Allele Identifier: CA2499225409

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1068105
• ClinVar RCV Id: RCV001379555
• dbSNP Id: rs2144640856
• gnomAD v4: 19-1401289-GGGCTACCTTTGGAGGAGGCGGCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401293_1401317del , CM000681.2:g.1401293_1401317del	GRCh38
NC_000019.9:g.1401292_1401316del , CM000681.1:g.1401292_1401316del	GRCh37
NC_000019.8:g.1352292_1352316del	NCBI36
NG_009785.1:g.5240_5264del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.163_181+6del
ENST00000447102.8:c.163_181+6del
ENST00000640762.1:c.112+51_112+75del	ENSP00000492031.1:n.112+51_112+75del
ENST00000252288.6:c.163_181+6del
ENST00000447102.7:c.163_181+6del
NM_000156.5:c.163_181+6del
NM_138924.2:c.163_181+6del
NM_000156.6:c.163_181+6del
NM_138924.3:c.163_181+6del