Canonical Allele Identifier: CA2138233874
Gene: GCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54877329_54877332delinsTACA , CM000676.2:g.54877329_54877332delinsTACA GRCh38
NC_000014.8:g.55344047_55344050delinsTACA , CM000676.1:g.55344047_55344050delinsTACA GRCh37
NC_000014.7:g.54413797_54413800delinsTACA NCBI36
NG_008647.1:g.30493_30496delinsTGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.344-11896_344-11893delinsTGTA MANE Select ENSP00000419045.2:n.344-11896_344-11893de...
ENST00000254299.8:n.492-11896_492-11893delinsTGTA
ENST00000395514.5:c.344-11896_344-11893delinsTGTA ENSP00000378890.1:n.344-11896_344-11893de...
ENST00000395521.6:n.127-11896_127-11893delinsTGTA
ENST00000491895.6:c.344-11896_344-11893delinsTGTA ENSP00000419045.2:n.344-11896_344-11893de...
ENST00000536224.2:c.344-11896_344-11893delinsTGTA ENSP00000445246.2:n.344-11896_344-11893de...
ENST00000543643.6:c.344-11896_344-11893delinsTGTA ENSP00000444011.2:n.344-11896_344-11893de...
ENST00000622544.4:c.344-11896_344-11893delinsTGTA ENSP00000477796.1:n.344-11896_344-11893de...
NM_000161.2:c.344-11896_344-11893delinsTGTA NP_000152.1:n.344-11896_344-11893delinsTG...
NM_001024024.1:c.344-11896_344-11893delinsTGTA NP_001019195.1:n.344-11896_344-11893delin...
NM_001024070.1:c.344-11896_344-11893delinsTGTA NP_001019241.1:n.344-11896_344-11893delin...
NM_001024071.1:c.344-11896_344-11893delinsTGTA NP_001019242.1:n.344-11896_344-11893delin...
XM_005267530.1:c.344-11896_344-11893delinsTGTA XP_005267587.1:n.344-11896_344-11893delin...
XM_011536643.1:c.344-11896_344-11893delinsTGTA XP_011534945.1:n.344-11896_344-11893delin...
XM_017021218.1:c.49+4210_49+4213delinsTGTA XP_016876707.1:n.49+4210_49+4213delinsTGT...
NM_000161.3:c.344-11896_344-11893delinsTGTA MANE Select NP_000152.1:n.344-11896_344-11893delinsTG...
NM_001024070.2:c.344-11896_344-11893delinsTGTA NP_001019241.1:n.344-11896_344-11893delin...
NM_001024071.2:c.344-11896_344-11893delinsTGTA NP_001019242.1:n.344-11896_344-11893delin...
NM_001024024.2:c.344-11896_344-11893delinsTGTA NP_001019195.1:n.344-11896_344-11893delin...