Canonical Allele Identifier: CA601003328

Gene: TYR

Linked Data

• dbSNP Id: rs1316102626
• gnomAD v2: 11-89018298-TC-T
• gnomAD v3: 11-89285130-TC-T
• gnomAD v4: 11-89285130-TC-T
• MyVariant Identifiers: chr11:g.89018299del (hg19) ; chr11:g.89285131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89285131del , CM000673.2:g.89285131del	GRCh38
NC_000011.9:g.89018299del , CM000673.1:g.89018299del	GRCh37
NC_000011.8:g.88657947del	NCBI36
NG_008748.1:g.112260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1366+177del MANE Select	ENSP00000263321.4:n.1366+177del
ENST00000263321.5:c.1366+177del	ENSP00000263321.4:n.1366+177del
ENST00000528243.1:n.364+177del
NM_000372.4:c.1366+177del	NP_000363.1:n.1366+177del
XM_011542970.1:c.1366+177del	XP_011541272.1:n.1366+177del
XM_011542970.2:c.1366+177del	XP_011541272.1:n.1366+177del
XR_001748321.1:n.2456+903del
XR_001748322.1:n.2457+903del
NM_000372.5:c.1366+177del MANE Select	NP_000363.1:n.1366+177del