Canonical Allele Identifier: CA2624944481

Gene: GCH1

Linked Data

• gnomAD v4: 14-54843602-CACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843605_54843607del , CM000676.2:g.54843605_54843607del	GRCh38
NC_000014.8:g.55310323_55310325del , CM000676.1:g.55310323_55310325del	GRCh37
NC_000014.7:g.54380073_54380075del	NCBI36
NG_008647.1:g.64220_64222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*412_*414del MANE Select	ENSP00000419045.2:n.*412_*414del
ENST00000254299.8:n.1313_1315del
ENST00000395514.5:c.*16+396_*16+398del	ENSP00000378890.1:n.*16+396_*16+398del
ENST00000395521.6:n.293-551_293-549del
ENST00000491895.6:c.*412_*414del	ENSP00000419045.2:n.*412_*414del
ENST00000536224.2:c.627-551_627-549del	ENSP00000445246.2:n.627-551_627-549del
ENST00000543643.6:c.*12+177_*12+179del	ENSP00000444011.2:n.*12+177_*12+179del
ENST00000622544.4:c.*412_*414del	ENSP00000477796.1:n.*412_*414del
NM_000161.2:c.*412_*414del	NP_000152.1:n.*412_*414del
NM_001024024.1:c.*16+396_*16+398del	NP_001019195.1:n.*16+396_*16+398del
NM_001024070.1:c.*12+177_*12+179del	NP_001019241.1:n.*12+177_*12+179del
NM_001024071.1:c.627-551_627-549del	NP_001019242.1:n.627-551_627-549del
XM_005267530.1:c.*189_*191del	XP_005267587.1:n.*189_*191del
XM_017021218.1:c.*412_*414del	XP_016876707.1:n.*412_*414del
NM_000161.3:c.*412_*414del MANE Select	NP_000152.1:n.*412_*414del
NM_001024070.2:c.*12+177_*12+179del	NP_001019241.1:n.*12+177_*12+179del
NM_001024071.2:c.627-551_627-549del	NP_001019242.1:n.627-551_627-549del
NM_001024024.2:c.*16+396_*16+398del	NP_001019195.1:n.*16+396_*16+398del