Canonical Allele Identifier: CA2138233834
Gene: GCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54877249_54877250delinsGA , CM000676.2:g.54877249_54877250delinsGA GRCh38
NC_000014.8:g.55343967_55343968delinsGA , CM000676.1:g.55343967_55343968delinsGA GRCh37
NC_000014.7:g.54413717_54413718delinsGA NCBI36
NG_008647.1:g.30575_30576delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.344-11814_344-11813delinsTC MANE Select ENSP00000419045.2:n.344-11814_344-11813de...
ENST00000254299.8:n.492-11814_492-11813delinsTC
ENST00000395514.5:c.344-11814_344-11813delinsTC ENSP00000378890.1:n.344-11814_344-11813de...
ENST00000395521.6:n.127-11814_127-11813delinsTC
ENST00000491895.6:c.344-11814_344-11813delinsTC ENSP00000419045.2:n.344-11814_344-11813de...
ENST00000536224.2:c.344-11814_344-11813delinsTC ENSP00000445246.2:n.344-11814_344-11813de...
ENST00000543643.6:c.344-11814_344-11813delinsTC ENSP00000444011.2:n.344-11814_344-11813de...
ENST00000622544.4:c.344-11814_344-11813delinsTC ENSP00000477796.1:n.344-11814_344-11813de...
NM_000161.2:c.344-11814_344-11813delinsTC NP_000152.1:n.344-11814_344-11813delinsTC...
NM_001024024.1:c.344-11814_344-11813delinsTC NP_001019195.1:n.344-11814_344-11813delin...
NM_001024070.1:c.344-11814_344-11813delinsTC NP_001019241.1:n.344-11814_344-11813delin...
NM_001024071.1:c.344-11814_344-11813delinsTC NP_001019242.1:n.344-11814_344-11813delin...
XM_005267530.1:c.344-11814_344-11813delinsTC XP_005267587.1:n.344-11814_344-11813delin...
XM_011536643.1:c.344-11814_344-11813delinsTC XP_011534945.1:n.344-11814_344-11813delin...
XM_017021218.1:c.49+4292_49+4293delinsTC XP_016876707.1:n.49+4292_49+4293delinsTC
NM_000161.3:c.344-11814_344-11813delinsTC MANE Select NP_000152.1:n.344-11814_344-11813delinsTC...
NM_001024070.2:c.344-11814_344-11813delinsTC NP_001019241.1:n.344-11814_344-11813delin...
NM_001024071.2:c.344-11814_344-11813delinsTC NP_001019242.1:n.344-11814_344-11813delin...
NM_001024024.2:c.344-11814_344-11813delinsTC NP_001019195.1:n.344-11814_344-11813delin...