Canonical Allele Identifier: CA2582641508
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399946-GAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399950_1399951del , CM000681.2:g.1399950_1399951del GRCh38
NC_000019.9:g.1399949_1399950del , CM000681.1:g.1399949_1399950del GRCh37
NC_000019.8:g.1350949_1350950del NCBI36
NG_009785.1:g.6606_6607del

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-10_182-9del MANE Select ENSP00000252288.1:n.182-10_182-9del
ENST00000447102.8:c.182-10_182-9del ENSP00000403536.2:n.182-10_182-9del
ENST00000640762.1:c.113-10_113-9del ENSP00000492031.1:n.113-10_113-9del
ENST00000252288.6:c.182-10_182-9del ENSP00000252288.1:n.182-10_182-9del
ENST00000447102.7:c.182-10_182-9del ENSP00000403536.2:n.182-10_182-9del
NM_000156.5:c.182-10_182-9del NP_000147.1:n.182-10_182-9del
NM_138924.2:c.182-10_182-9del NP_620279.1:n.182-10_182-9del
NM_000156.6:c.182-10_182-9del MANE Select NP_000147.1:n.182-10_182-9del
NM_138924.3:c.182-10_182-9del NP_620279.1:n.182-10_182-9del
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