Canonical Allele Identifier: CA6221183

Gene: TYR

Linked Data

• dbSNP Id: rs1491461604
• ExAC: 11:88911851 T / TACATGGGAG
• gnomAD v2: 11-88911851-T-TACATGGGAG
• gnomAD v3: 11-89178683-T-TACATGGGAG
• gnomAD v4: 11-89178683-T-TACATGGGAG
• MyVariant Identifiers: chr11:g.88911851_88911852insACATGGGAG (hg19) ; chr11:g.89178683_89178684insACATGGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178683_89178684insACATGGGAG , CM000673.2:g.89178683_89178684insACATGGGAG	GRCh38
NC_000011.9:g.88911851_88911852insACATGGGAG , CM000673.1:g.88911851_88911852insACATGGGAG	GRCh37
NC_000011.8:g.88551499_88551500insACATGGGAG	NCBI36
NG_008748.1:g.5812_5813insACATGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.730_731insACATGGGAG MANE Select	ENSP00000263321.4:p.Cys244delinsTyrMetGlyGly
ENST00000263321.5:c.730_731insACATGGGAG	ENSP00000263321.4:p.Cys244delinsTyrMetGlyGly
ENST00000526139.1:n.791_792insACATGGGAG
NM_000372.4:c.730_731insACATGGGAG	NP_000363.1:p.Cys244delinsTyrMetGlyGly
XM_011542970.1:c.730_731insACATGGGAG	XP_011541272.1:p.Cys244delinsTyrMetGlyGly
XM_011542970.2:c.730_731insACATGGGAG	XP_011541272.1:p.Cys244delinsTyrMetGlyGly
XR_001748321.1:n.2718-65151_2718-65150insCTCCCATGT
XR_001748322.1:n.2733-65151_2733-65150insCTCCCATGT
NM_000372.5:c.730_731insACATGGGAG MANE Select	NP_000363.1:p.Cys244delinsTyrMetGlyGly