Canonical Allele Identifier: CA2582641086
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399076-AGAGGGGCTTCCCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399082_1399094del , CM000681.2:g.1399082_1399094del GRCh38
NC_000019.9:g.1399081_1399093del , CM000681.1:g.1399081_1399093del GRCh37
NC_000019.8:g.1350081_1350093del NCBI36
NG_009785.1:g.7465_7477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.459+39_460-51del MANE Select ENSP00000252288.1:n.459+39_460-51del
ENST00000447102.8:c.459+39_460-51del ENSP00000403536.2:n.459+39_460-51del
ENST00000591788.3:c.142+39_143-51del
ENST00000640164.1:n.292+39_293-51del
ENST00000640762.1:c.390+39_391-51del ENSP00000492031.1:n.390+39_391-51del
ENST00000252288.6:c.459+39_460-51del ENSP00000252288.1:n.459+39_460-51del
ENST00000447102.7:c.459+39_460-51del ENSP00000403536.2:n.459+39_460-51del
ENST00000591788.2:c.144+39_145-51del ENSP00000466341.2:n.144+39_145-51del
NM_000156.5:c.459+39_460-51del NP_000147.1:n.459+39_460-51del
NM_138924.2:c.459+39_460-51del NP_620279.1:n.459+39_460-51del
NM_000156.6:c.459+39_460-51del MANE Select NP_000147.1:n.459+39_460-51del
NM_138924.3:c.459+39_460-51del NP_620279.1:n.459+39_460-51del
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