Canonical Allele Identifier: CA2580612592
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2501048
ClinVar RCV Id: RCV003226645
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401468_1401469del , CM000681.2:g.1401468_1401469del GRCh38
NC_000019.9:g.1401467_1401468del , CM000681.1:g.1401467_1401468del GRCh37
NC_000019.8:g.1352467_1352468del NCBI36
NG_009785.1:g.5088_5089del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.11_12del MANE Select ENSP00000252288.1:p.Pro4GlnfsTer?
ENST00000447102.8:c.11_12del ENSP00000403536.2:p.Pro4GlnfsTer?
ENST00000640762.1:c.11_12del ENSP00000492031.1:p.Pro4GlnfsTer?
ENST00000252288.6:c.11_12del ENSP00000252288.1:p.Pro4GlnfsTer?
ENST00000447102.7:c.11_12del ENSP00000403536.2:p.Pro4GlnfsTer?
NM_000156.5:c.11_12del NP_000147.1:p.Pro4GlnfsTer?
NM_138924.2:c.11_12del NP_620279.1:p.Pro4GlnfsTer?
NM_000156.6:c.11_12del MANE Select NP_000147.1:p.Pro4GlnfsTer?
NM_138924.3:c.11_12del NP_620279.1:p.Pro4GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'