Canonical Allele Identifier: CA2695215192

Gene: TYR

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284937_89284938insGG , CM000673.2:g.89284937_89284938insGG	GRCh38
NC_000011.9:g.89018105_89018106insGG , CM000673.1:g.89018105_89018106insGG	GRCh37
NC_000011.8:g.88657753_88657754insGG	NCBI36
NG_008748.1:g.112066_112067insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1349_1350insGG MANE Select	ENSP00000263321.4:p.Ser450ArgfsTer?
ENST00000263321.5:c.1349_1350insGG	ENSP00000263321.4:p.Ser450ArgfsTer?
ENST00000528243.1:n.347_348insGG
NM_000372.4:c.1349_1350insGG	NP_000363.1:p.Ser450ArgfsTer?
XM_011542970.1:c.1349_1350insGG	XP_011541272.1:p.Ser450ArgfsTer?
XM_011542970.2:c.1349_1350insGG	XP_011541272.1:p.Ser450ArgfsTer?
XR_001748321.1:n.2456+1097_2456+1098insCC
XR_001748322.1:n.2457+1097_2457+1098insCC
NM_000372.5:c.1349_1350insGG MANE Select	NP_000363.1:p.Ser450ArgfsTer?