Canonical Allele Identifier: CA2576548646
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1398964-C-CCAGGAGATGAGGTTG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398970_1398971insATGAGGTTGCAGGAG , CM000681.2:g.1398970_1398971insATGAGGTTGCAGGAG GRCh38
NC_000019.9:g.1398969_1398970insATGAGGTTGCAGGAG , CM000681.1:g.1398969_1398970insATGAGGTTGCAGGAG GRCh37
NC_000019.8:g.1349969_1349970insATGAGGTTGCAGGAG NCBI36
NG_009785.1:g.7589_7590insCAACCTCATCTCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.521_522insCAACCTCATCTCCTG MANE Select ENSP00000252288.1:p.Ser173_Trp174insCysAsnLeuIleSer
ENST00000447102.8:c.521_522insCAACCTCATCTCCTG ENSP00000403536.2:p.Ser173_Trp174insCysAsnLeuIleSer
ENST00000591788.3:c.204_205insCAACCTCATCTCCTG
ENST00000640164.1:n.354_355insCAACCTCATCTCCTG
ENST00000640762.1:c.452_453insCAACCTCATCTCCTG ENSP00000492031.1:p.Ser150_Trp151insCysAsnLeuIleSer
ENST00000252288.6:c.521_522insCAACCTCATCTCCTG ENSP00000252288.1:p.Ser173_Trp174insCysAsnLeuIleSer
ENST00000447102.7:c.521_522insCAACCTCATCTCCTG ENSP00000403536.2:p.Ser173_Trp174insCysAsnLeuIleSer
ENST00000591788.2:c.206_207insCAACCTCATCTCCTG ENSP00000466341.2:p.Ser68_Trp69insCysAsnLeuIleSer
NM_000156.5:c.521_522insCAACCTCATCTCCTG NP_000147.1:p.Ser173_Trp174insCysAsnLeuIleSer
NM_138924.2:c.521_522insCAACCTCATCTCCTG NP_620279.1:p.Ser173_Trp174insCysAsnLeuIleSer
NM_000156.6:c.521_522insCAACCTCATCTCCTG MANE Select NP_000147.1:p.Ser173_Trp174insCysAsnLeuIleSer
NM_138924.3:c.521_522insCAACCTCATCTCCTG NP_620279.1:p.Ser173_Trp174insCysAsnLeuIleSer
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