Canonical Allele Identifier: CA10588575
Gene: GCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265173
ClinVar RCV Id: RCV000255238 RCV001197727 RCV001221402 RCV001266568
dbSNP Id: rs886039379
gnomAD v4: 14-54844137-CAT-C
MyVariant Identifiers: chr14:g.55310856_55310857del (hg19) chr14:g.54844138_54844139del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844138_54844139del , CM000676.2:g.54844138_54844139del GRCh38
NC_000014.8:g.55310856_55310857del , CM000676.1:g.55310856_55310857del GRCh37
NC_000014.7:g.54380606_54380607del NCBI36
NG_008647.1:g.63686_63687del

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.631_632del MANE Select ENSP00000419045.2:p.Met211ValfsTer?
ENST00000254299.8:n.779_780del
ENST00000395514.5:c.631_632del ENSP00000378890.1:p.Met211ValfsTer?
ENST00000395521.6:n.293-1085_293-1084del
ENST00000491895.6:c.631_632del ENSP00000419045.2:p.Met211ValfsTer?
ENST00000536224.2:c.627-1085_627-1084del ENSP00000445246.2:n.627-1085_627-1084del
ENST00000543643.6:c.627-270_627-269del ENSP00000444011.2:n.627-270_627-269del
ENST00000622544.4:c.631_632del ENSP00000477796.1:p.Met211ValfsTer?
NM_000161.2:c.631_632del NP_000152.1:p.Met211ValfsTer?
NM_001024024.1:c.631_632del NP_001019195.1:p.Met211ValfsTer?
NM_001024070.1:c.627-270_627-269del NP_001019241.1:n.627-270_627-269del
NM_001024071.1:c.627-1085_627-1084del NP_001019242.1:n.627-1085_627-1084del
XM_005267530.1:c.627-270_627-269del XP_005267587.1:n.627-270_627-269del
XM_017021218.1:c.337_338del XP_016876707.1:p.Met113ValfsTer?
NM_000161.3:c.631_632del MANE Select NP_000152.1:p.Met211ValfsTer?
NM_001024070.2:c.627-270_627-269del NP_001019241.1:n.627-270_627-269del
NM_001024071.2:c.627-1085_627-1084del NP_001019242.1:n.627-1085_627-1084del
NM_001024024.2:c.631_632del NP_001019195.1:p.Met211ValfsTer?
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