Canonical Allele Identifier: CA614283917

Gene: GCH1

Linked Data

• gnomAD v2: 14-55310861-T-TGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG
• MyVariant Identifiers: chr14:g.55310861_55310862insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844143_54844144insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG , CM000676.2:g.54844143_54844144insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG	GRCh38
NC_000014.8:g.55310861_55310862insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG , CM000676.1:g.55310861_55310862insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG	GRCh37
NC_000014.7:g.54380611_54380612insGTTGCTTCAACCACTACCCCGACTCCAGCAGGCCGCAAGGCTTCCGTGATTG	NCBI36
NG_008647.1:g.63681_63682insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC MANE Select	ENSP00000419045.2:n.627-1_627insCAATCACGG...
ENST00000254299.8:n.775-1_775insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC
ENST00000395514.5:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000378890.1:n.627-1_627insCAATCACGG...
ENST00000395521.6:n.293-1090_293-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC
ENST00000491895.6:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000419045.2:n.627-1_627insCAATCACGG...
ENST00000536224.2:c.627-1090_627-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000445246.2:n.627-1090_627-1089insC...
ENST00000543643.6:c.627-275_627-274insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000444011.2:n.627-275_627-274insCAA...
ENST00000622544.4:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	ENSP00000477796.1:n.627-1_627insCAATCACGG...
NM_000161.2:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_000152.1:n.627-1_627insCAATCACGGAAGCCT...
NM_001024024.1:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019195.1:n.627-1_627insCAATCACGGAAG...
NM_001024070.1:c.627-275_627-274insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019241.1:n.627-275_627-274insCAATCA...
NM_001024071.1:c.627-1090_627-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019242.1:n.627-1090_627-1089insCAAT...
XM_005267530.1:c.627-275_627-274insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	XP_005267587.1:n.627-275_627-274insCAATCA...
XM_017021218.1:c.333-1_333insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	XP_016876707.1:n.333-1_333insCAATCACGGAAG...
NM_000161.3:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC MANE Select	NP_000152.1:n.627-1_627insCAATCACGGAAGCCT...
NM_001024070.2:c.627-275_627-274insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019241.1:n.627-275_627-274insCAATCA...
NM_001024071.2:c.627-1090_627-1089insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019242.1:n.627-1090_627-1089insCAAT...
NM_001024024.2:c.627-1_627insCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAAC	NP_001019195.1:n.627-1_627insCAATCACGGAAG...