Canonical Allele Identifier: CA2138224435

Gene: GCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.54857962_54857966delinsCCTAT , CM000676.2:g.54857962_54857966delinsCCTAT	GRCh38
NC_000014.8:g.55324680_55324684delinsCCTAT , CM000676.1:g.55324680_55324684delinsCCTAT	GRCh37
NC_000014.7:g.54394430_54394434delinsCCTAT	NCBI36
NG_008647.1:g.49859_49863delinsATAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491895.7:c.509+1715_509+1719delinsATAGG MANE Select	ENSP00000419045.2:n.509+1715_509+1719delinsATAGG
ENST00000254299.8:n.657+1715_657+1719delinsATAGG
ENST00000395514.5:c.509+1715_509+1719delinsATAGG	ENSP00000378890.1:n.509+1715_509+1719delinsATAGG
ENST00000395521.6:n.292+1715_292+1719delinsATAGG
ENST00000491895.6:c.509+1715_509+1719delinsATAGG	ENSP00000419045.2:n.509+1715_509+1719delinsATAGG
ENST00000536224.2:c.509+1715_509+1719delinsATAGG	ENSP00000445246.2:n.509+1715_509+1719delinsATAGG
ENST00000543643.6:c.509+1715_509+1719delinsATAGG	ENSP00000444011.2:n.509+1715_509+1719delinsATAGG
ENST00000622544.4:c.509+1715_509+1719delinsATAGG	ENSP00000477796.1:n.509+1715_509+1719delinsATAGG
NM_000161.2:c.509+1715_509+1719delinsATAGG	NP_000152.1:n.509+1715_509+1719delinsATAGG
NM_001024024.1:c.509+1715_509+1719delinsATAGG	NP_001019195.1:n.509+1715_509+1719delinsATAGG
NM_001024070.1:c.509+1715_509+1719delinsATAGG	NP_001019241.1:n.509+1715_509+1719delinsATAGG
NM_001024071.1:c.509+1715_509+1719delinsATAGG	NP_001019242.1:n.509+1715_509+1719delinsATAGG
XM_005267530.1:c.509+1715_509+1719delinsATAGG	XP_005267587.1:n.509+1715_509+1719delinsATAGG
XM_011536643.1:c.510-1199_510-1195delinsATAGG	XP_011534945.1:n.510-1199_510-1195delinsATAGG
XM_017021218.1:c.215+1715_215+1719delinsATAGG	XP_016876707.1:n.215+1715_215+1719delinsATAGG
NM_000161.3:c.509+1715_509+1719delinsATAGG MANE Select	NP_000152.1:n.509+1715_509+1719delinsATAGG
NM_001024070.2:c.509+1715_509+1719delinsATAGG	NP_001019241.1:n.509+1715_509+1719delinsATAGG
NM_001024071.2:c.509+1715_509+1719delinsATAGG	NP_001019242.1:n.509+1715_509+1719delinsATAGG
NM_001024024.2:c.509+1715_509+1719delinsATAGG	NP_001019195.1:n.509+1715_509+1719delinsATAGG