Canonical Allele Identifier: CA2138233839
Gene: GCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54877262_54877263delinsCT , CM000676.2:g.54877262_54877263delinsCT GRCh38
NC_000014.8:g.55343980_55343981delinsCT , CM000676.1:g.55343980_55343981delinsCT GRCh37
NC_000014.7:g.54413730_54413731delinsCT NCBI36
NG_008647.1:g.30562_30563delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.344-11827_344-11826delinsAG MANE Select ENSP00000419045.2:n.344-11827_344-11826de...
ENST00000254299.8:n.492-11827_492-11826delinsAG
ENST00000395514.5:c.344-11827_344-11826delinsAG ENSP00000378890.1:n.344-11827_344-11826de...
ENST00000395521.6:n.127-11827_127-11826delinsAG
ENST00000491895.6:c.344-11827_344-11826delinsAG ENSP00000419045.2:n.344-11827_344-11826de...
ENST00000536224.2:c.344-11827_344-11826delinsAG ENSP00000445246.2:n.344-11827_344-11826de...
ENST00000543643.6:c.344-11827_344-11826delinsAG ENSP00000444011.2:n.344-11827_344-11826de...
ENST00000622544.4:c.344-11827_344-11826delinsAG ENSP00000477796.1:n.344-11827_344-11826de...
NM_000161.2:c.344-11827_344-11826delinsAG NP_000152.1:n.344-11827_344-11826delinsAG...
NM_001024024.1:c.344-11827_344-11826delinsAG NP_001019195.1:n.344-11827_344-11826delin...
NM_001024070.1:c.344-11827_344-11826delinsAG NP_001019241.1:n.344-11827_344-11826delin...
NM_001024071.1:c.344-11827_344-11826delinsAG NP_001019242.1:n.344-11827_344-11826delin...
XM_005267530.1:c.344-11827_344-11826delinsAG XP_005267587.1:n.344-11827_344-11826delin...
XM_011536643.1:c.344-11827_344-11826delinsAG XP_011534945.1:n.344-11827_344-11826delin...
XM_017021218.1:c.49+4279_49+4280delinsAG XP_016876707.1:n.49+4279_49+4280delinsAG
NM_000161.3:c.344-11827_344-11826delinsAG MANE Select NP_000152.1:n.344-11827_344-11826delinsAG...
NM_001024070.2:c.344-11827_344-11826delinsAG NP_001019241.1:n.344-11827_344-11826delin...
NM_001024071.2:c.344-11827_344-11826delinsAG NP_001019242.1:n.344-11827_344-11826delin...
NM_001024024.2:c.344-11827_344-11826delinsAG NP_001019195.1:n.344-11827_344-11826delin...