Canonical Allele Identifier: CA2624944703

Gene: GCH1

Linked Data

• gnomAD v4: 14-54844143-T-TGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844143_54844144insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC , CM000676.2:g.54844143_54844144insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC	GRCh38
NC_000014.8:g.55310861_55310862insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC , CM000676.1:g.55310861_55310862insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC	GRCh37
NC_000014.7:g.54380611_54380612insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTC	NCBI36
NG_008647.1:g.63681_63682insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC MANE Select	ENSP00000419045.2:n.627-1_627insGAAGCCTTG...
ENST00000254299.8:n.775-1_775insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC
ENST00000395514.5:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000378890.1:n.627-1_627insGAAGCCTTG...
ENST00000395521.6:n.293-1090_293-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC
ENST00000491895.6:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000419045.2:n.627-1_627insGAAGCCTTG...
ENST00000536224.2:c.627-1090_627-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000445246.2:n.627-1090_627-1089insG...
ENST00000543643.6:c.627-275_627-274insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000444011.2:n.627-275_627-274insGAA...
ENST00000622544.4:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000477796.1:n.627-1_627insGAAGCCTTG...
NM_000161.2:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_000152.1:n.627-1_627insGAAGCCTTGCGGCCT...
NM_001024024.1:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019195.1:n.627-1_627insGAAGCCTTGCGG...
NM_001024070.1:c.627-275_627-274insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019241.1:n.627-275_627-274insGAAGCC...
NM_001024071.1:c.627-1090_627-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019242.1:n.627-1090_627-1089insGAAG...
XM_005267530.1:c.627-275_627-274insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	XP_005267587.1:n.627-275_627-274insGAAGCC...
XM_017021218.1:c.333-1_333insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	XP_016876707.1:n.333-1_333insGAAGCCTTGCGG...
NM_000161.3:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC MANE Select	NP_000152.1:n.627-1_627insGAAGCCTTGCGGCCT...
NM_001024070.2:c.627-275_627-274insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019241.1:n.627-275_627-274insGAAGCC...
NM_001024071.2:c.627-1090_627-1089insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019242.1:n.627-1090_627-1089insGAAG...
NM_001024024.2:c.627-1_627insGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019195.1:n.627-1_627insGAAGCCTTGCGG...