Canonical Allele Identifier: CA2624945271

Gene: GCH1

Linked Data

• gnomAD v4: 14-54902441-AGGCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54902442_54902446del , CM000676.2:g.54902442_54902446del	GRCh38
NC_000014.8:g.55369160_55369164del , CM000676.1:g.55369160_55369164del	GRCh37
NC_000014.7:g.54438910_54438914del	NCBI36
NG_008647.1:g.5379_5383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000491895.7:c.218_222del MANE Select	ENSP00000419045.2:p.Ala73ValfsTer?
ENST00000254299.8:n.366_370del
ENST00000395514.5:c.218_222del	ENSP00000378890.1:p.Ala73ValfsTer?
ENST00000395521.6:n.1_5del
ENST00000491895.6:c.218_222del	ENSP00000419045.2:p.Ala73ValfsTer?
ENST00000536224.2:c.218_222del	ENSP00000445246.2:p.Ala73ValfsTer?
ENST00000543643.6:c.218_222del	ENSP00000444011.2:p.Ala73ValfsTer?
ENST00000622544.4:c.218_222del	ENSP00000477796.1:p.Ala73ValfsTer?
NM_000161.2:c.218_222del	NP_000152.1:p.Ala73ValfsTer?
NM_001024024.1:c.218_222del	NP_001019195.1:p.Ala73ValfsTer?
NM_001024070.1:c.218_222del	NP_001019241.1:p.Ala73ValfsTer?
NM_001024071.1:c.218_222del	NP_001019242.1:p.Ala73ValfsTer?
XM_005267530.1:c.218_222del	XP_005267587.1:p.Ala73ValfsTer?
XM_011536643.1:c.218_222del	XP_011534945.1:p.Ala73ValfsTer?
NM_000161.3:c.218_222del MANE Select	NP_000152.1:p.Ala73ValfsTer?
NM_001024070.2:c.218_222del	NP_001019241.1:p.Ala73ValfsTer?
NM_001024071.2:c.218_222del	NP_001019242.1:p.Ala73ValfsTer?
NM_001024024.2:c.218_222del	NP_001019195.1:p.Ala73ValfsTer?