Canonical Allele Identifier: CA2624944722

Gene: GCH1

Linked Data

• gnomAD v4: 14-54844173-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54844176_54844178del , CM000676.2:g.54844176_54844178del	GRCh38
NC_000014.8:g.55310894_55310896del , CM000676.1:g.55310894_55310896del	GRCh37
NC_000014.7:g.54380644_54380646del	NCBI36
NG_008647.1:g.63649_63651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.627-33_627-31del MANE Select	ENSP00000419045.2:n.627-33_627-31del
ENST00000254299.8:n.775-33_775-31del
ENST00000395514.5:c.627-33_627-31del	ENSP00000378890.1:n.627-33_627-31del
ENST00000395521.6:n.293-1122_293-1120del
ENST00000491895.6:c.627-33_627-31del	ENSP00000419045.2:n.627-33_627-31del
ENST00000536224.2:c.627-1122_627-1120del	ENSP00000445246.2:n.627-1122_627-1120del
ENST00000543643.6:c.627-307_627-305del	ENSP00000444011.2:n.627-307_627-305del
ENST00000622544.4:c.627-33_627-31del	ENSP00000477796.1:n.627-33_627-31del
NM_000161.2:c.627-33_627-31del	NP_000152.1:n.627-33_627-31del
NM_001024024.1:c.627-33_627-31del	NP_001019195.1:n.627-33_627-31del
NM_001024070.1:c.627-307_627-305del	NP_001019241.1:n.627-307_627-305del
NM_001024071.1:c.627-1122_627-1120del	NP_001019242.1:n.627-1122_627-1120del
XM_005267530.1:c.627-307_627-305del	XP_005267587.1:n.627-307_627-305del
XM_017021218.1:c.333-33_333-31del	XP_016876707.1:n.333-33_333-31del
NM_000161.3:c.627-33_627-31del MANE Select	NP_000152.1:n.627-33_627-31del
NM_001024070.2:c.627-307_627-305del	NP_001019241.1:n.627-307_627-305del
NM_001024071.2:c.627-1122_627-1120del	NP_001019242.1:n.627-1122_627-1120del
NM_001024024.2:c.627-33_627-31del	NP_001019195.1:n.627-33_627-31del