Canonical Allele Identifier: CA2503982553

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54843596_54843597insCGTAATG , CM000676.2:g.54843596_54843597insCGTAATG	GRCh38
NC_000014.8:g.55310314_55310315insCGTAATG , CM000676.1:g.55310314_55310315insCGTAATG	GRCh37
NC_000014.7:g.54380064_54380065insCGTAATG	NCBI36
NG_008647.1:g.64228_64229insCATTACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.*420_*421insCATTACG MANE Select	ENSP00000419045.2:n.*420_*421insCATTACG
ENST00000254299.8:n.1321_1322insCATTACG
ENST00000395514.5:c.*16+404_*16+405insCATTACG	ENSP00000378890.1:n.*16+404_*16+405insCATTACG
ENST00000395521.6:n.293-543_293-542insCATTACG
ENST00000491895.6:c.*420_*421insCATTACG	ENSP00000419045.2:n.*420_*421insCATTACG
ENST00000536224.2:c.627-543_627-542insCATTACG	ENSP00000445246.2:n.627-543_627-542insCATTACG
ENST00000543643.6:c.*12+185_*12+186insCATTACG	ENSP00000444011.2:n.*12+185_*12+186insCATTACG
ENST00000622544.4:c.*420_*421insCATTACG	ENSP00000477796.1:n.*420_*421insCATTACG
NM_000161.2:c.*420_*421insCATTACG	NP_000152.1:n.*420_*421insCATTACG
NM_001024024.1:c.*16+404_*16+405insCATTACG	NP_001019195.1:n.*16+404_*16+405insCATTACG
NM_001024070.1:c.*12+185_*12+186insCATTACG	NP_001019241.1:n.*12+185_*12+186insCATTACG
NM_001024071.1:c.627-543_627-542insCATTACG	NP_001019242.1:n.627-543_627-542insCATTACG
XM_005267530.1:c.*197_*198insCATTACG	XP_005267587.1:n.*197_*198insCATTACG
XM_017021218.1:c.*420_*421insCATTACG	XP_016876707.1:n.*420_*421insCATTACG
NM_000161.3:c.*420_*421insCATTACG MANE Select	NP_000152.1:n.*420_*421insCATTACG
NM_001024070.2:c.*12+185_*12+186insCATTACG	NP_001019241.1:n.*12+185_*12+186insCATTACG
NM_001024071.2:c.627-543_627-542insCATTACG	NP_001019242.1:n.627-543_627-542insCATTACG
NM_001024024.2:c.*16+404_*16+405insCATTACG	NP_001019195.1:n.*16+404_*16+405insCATTACG