Canonical Allele Identifier: CA992512101
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082631570
gnomAD v3: 19-1401226-CG-C
gnomAD v4: 19-1401226-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401229del , CM000681.2:g.1401229del GRCh38
NC_000019.9:g.1401228del , CM000681.1:g.1401228del GRCh37
NC_000019.8:g.1352228del NCBI36
NG_009785.1:g.5327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+69del MANE Select ENSP00000252288.1:n.181+69del
ENST00000447102.8:c.181+69del ENSP00000403536.2:n.181+69del
ENST00000640762.1:c.112+138del ENSP00000492031.1:n.112+138del
ENST00000252288.6:c.181+69del ENSP00000252288.1:n.181+69del
ENST00000447102.7:c.181+69del ENSP00000403536.2:n.181+69del
NM_000156.5:c.181+69del NP_000147.1:n.181+69del
NM_138924.2:c.181+69del NP_620279.1:n.181+69del
NM_000156.6:c.181+69del MANE Select NP_000147.1:n.181+69del
NM_138924.3:c.181+69del NP_620279.1:n.181+69del
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