Canonical Allele Identifier: CA2582641163
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399321-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399321_1399322insT , CM000681.2:g.1399321_1399322insT GRCh38
NC_000019.9:g.1399320_1399321insT , CM000681.1:g.1399320_1399321insT GRCh37
NC_000019.8:g.1350320_1350321insT NCBI36
NG_009785.1:g.7232_7233insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-127_392-126insA MANE Select ENSP00000252288.1:n.392-127_392-126insA
ENST00000447102.8:c.392-127_392-126insA ENSP00000403536.2:n.392-127_392-126insA
ENST00000591788.3:c.75-127_75-126insA
ENST00000640164.1:n.225-127_225-126insA
ENST00000640762.1:c.323-127_323-126insA ENSP00000492031.1:n.323-127_323-126insA
ENST00000252288.6:c.392-127_392-126insA ENSP00000252288.1:n.392-127_392-126insA
ENST00000447102.7:c.392-127_392-126insA ENSP00000403536.2:n.392-127_392-126insA
ENST00000591788.2:c.77-127_77-126insA ENSP00000466341.2:n.77-127_77-126insA
NM_000156.5:c.392-127_392-126insA NP_000147.1:n.392-127_392-126insA
NM_138924.2:c.392-127_392-126insA NP_620279.1:n.392-127_392-126insA
NM_000156.6:c.392-127_392-126insA MANE Select NP_000147.1:n.392-127_392-126insA
NM_138924.3:c.392-127_392-126insA NP_620279.1:n.392-127_392-126insA
Search 100 bp 5'
Search 100 bp 3'