Canonical Allele Identifier: CA601003078

Gene: TYR

Linked Data

• dbSNP Id: rs1425199210
• gnomAD v2: 11-89017973-CTCT-C
• gnomAD v3: 11-89284805-CTCT-C
• gnomAD v4: 11-89284805-CTCT-C
• MyVariant Identifiers: chr11:g.89017974_89017976del (hg19) ; chr11:g.89284806_89284808del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89284808_89284810del , CM000673.2:g.89284808_89284810del	GRCh38
NC_000011.9:g.89017976_89017978del , CM000673.1:g.89017976_89017978del	GRCh37
NC_000011.8:g.88657624_88657626del	NCBI36
NG_008748.1:g.111937_111939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263321.6:c.1220_1222del MANE Select	ENSP00000263321.4:p.Leu407del
ENST00000263321.5:c.1220_1222del	ENSP00000263321.4:p.Leu407del
ENST00000528243.1:n.218_220del
NM_000372.4:c.1220_1222del	NP_000363.1:p.Leu407del
XM_011542970.1:c.1220_1222del	XP_011541272.1:p.Leu407del
XM_011542970.2:c.1220_1222del	XP_011541272.1:p.Leu407del
XR_001748321.1:n.2456+1226_2456+1228del
XR_001748322.1:n.2457+1226_2457+1228del
NM_000372.5:c.1220_1222del MANE Select	NP_000363.1:p.Leu407del