Canonical Allele Identifier: CA2615470625

Gene: TYR

Linked Data

• gnomAD v4: 11-89178677-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178681del , CM000673.2:g.89178681del	GRCh38
NC_000011.9:g.88911849del , CM000673.1:g.88911849del	GRCh37
NC_000011.8:g.88551497del	NCBI36
NG_008748.1:g.5810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.728del MANE Select	ENSP00000263321.4:p.Lys243SerfsTer?
ENST00000263321.5:c.728del	ENSP00000263321.4:p.Lys243SerfsTer?
ENST00000526139.1:n.789del
NM_000372.4:c.728del	NP_000363.1:p.Lys243SerfsTer?
XM_011542970.1:c.728del	XP_011541272.1:p.Lys243SerfsTer?
XM_011542970.2:c.728del	XP_011541272.1:p.Lys243SerfsTer?
XR_001748321.1:n.2718-65145del
XR_001748322.1:n.2733-65145del
NM_000372.5:c.728del MANE Select	NP_000363.1:p.Lys243SerfsTer?