Canonical Allele Identifier: CA6221185

Gene: TYR

Linked Data

• dbSNP Id: rs879992392
• ExAC: 11:88911853 T / TACAGCACA
• gnomAD v2: 11-88911853-T-TACAGCACA
• gnomAD v3: 11-89178685-T-TACAGCACA
• gnomAD v4: 11-89178685-T-TACAGCACA
• MyVariant Identifiers: chr11:g.88911853_88911854insACAGCACA (hg19) ; chr11:g.89178685_89178686insACAGCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178685_89178686insACAGCACA , CM000673.2:g.89178685_89178686insACAGCACA	GRCh38
NC_000011.9:g.88911853_88911854insACAGCACA , CM000673.1:g.88911853_88911854insACAGCACA	GRCh37
NC_000011.8:g.88551501_88551502insACAGCACA	NCBI36
NG_008748.1:g.5814_5815insACAGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.732_733insACAGCACA MANE Select	ENSP00000263321.4:p.Asp245ThrfsTer?
ENST00000263321.5:c.732_733insACAGCACA	ENSP00000263321.4:p.Asp245ThrfsTer?
ENST00000526139.1:n.793_794insACAGCACA
NM_000372.4:c.732_733insACAGCACA	NP_000363.1:p.Asp245ThrfsTer?
XM_011542970.1:c.732_733insACAGCACA	XP_011541272.1:p.Asp245ThrfsTer?
XM_011542970.2:c.732_733insACAGCACA	XP_011541272.1:p.Asp245ThrfsTer?
XR_001748321.1:n.2718-65153_2718-65152insTGTGCTGT
XR_001748322.1:n.2733-65153_2733-65152insTGTGCTGT
NM_000372.5:c.732_733insACAGCACA MANE Select	NP_000363.1:p.Asp245ThrfsTer?