Canonical Allele Identifier: CA2624944705
Gene: GCH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.54844147_54844148insCCCGACTCCAGCAGGCCGCAAGGCTTC , CM000676.2:g.54844147_54844148insCCCGACTCCAGCAGGCCGCAAGGCTTC GRCh38
NC_000014.8:g.55310865_55310866insCCCGACTCCAGCAGGCCGCAAGGCTTC , CM000676.1:g.55310865_55310866insCCCGACTCCAGCAGGCCGCAAGGCTTC GRCh37
NC_000014.7:g.54380615_54380616insCCCGACTCCAGCAGGCCGCAAGGCTTC NCBI36
NG_008647.1:g.63678_63679insAAGCCTTGCGGCCTGCTGGAGTCGGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000491895.7:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG MANE Select ENSP00000419045.2:n.627-4_627-3insAAGCCTT...
ENST00000254299.8:n.775-4_775-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG
ENST00000395514.5:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG ENSP00000378890.1:n.627-4_627-3insAAGCCTT...
ENST00000395521.6:n.293-1093_293-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG
ENST00000491895.6:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG ENSP00000419045.2:n.627-4_627-3insAAGCCTT...
ENST00000536224.2:c.627-1093_627-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG ENSP00000445246.2:n.627-1093_627-1092insA...
ENST00000543643.6:c.627-278_627-277insAAGCCTTGCGGCCTGCTGGAGTCGGGG ENSP00000444011.2:n.627-278_627-277insAAG...
ENST00000622544.4:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG ENSP00000477796.1:n.627-4_627-3insAAGCCTT...
NM_000161.2:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_000152.1:n.627-4_627-3insAAGCCTTGCGGCC...
NM_001024024.1:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_001019195.1:n.627-4_627-3insAAGCCTTGCG...
NM_001024070.1:c.627-278_627-277insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_001019241.1:n.627-278_627-277insAAGCCT...
NM_001024071.1:c.627-1093_627-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_001019242.1:n.627-1093_627-1092insAAGC...
XM_005267530.1:c.627-278_627-277insAAGCCTTGCGGCCTGCTGGAGTCGGGG XP_005267587.1:n.627-278_627-277insAAGCCT...
XM_017021218.1:c.333-4_333-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG XP_016876707.1:n.333-4_333-3insAAGCCTTGCG...
NM_000161.3:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG MANE Select NP_000152.1:n.627-4_627-3insAAGCCTTGCGGCC...
NM_001024070.2:c.627-278_627-277insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_001019241.1:n.627-278_627-277insAAGCCT...
NM_001024071.2:c.627-1093_627-1092insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_001019242.1:n.627-1093_627-1092insAAGC...
NM_001024024.2:c.627-4_627-3insAAGCCTTGCGGCCTGCTGGAGTCGGGG NP_001019195.1:n.627-4_627-3insAAGCCTTGCG...