Canonical Allele Identifier: CA216230644

Gene: TH

Linked Data

• dbSNP Id: rs576586571
• gnomAD v3: 11-2172191-AAAGCCCC-A
• gnomAD v4: 11-2172191-AAAGCCCC-A
• MyVariant Identifiers: chr11:g.2193422_2193428del (hg19) ; chr11:g.2172192_2172198del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2172195_2172201del , CM000673.2:g.2172195_2172201del	GRCh38
NC_000011.9:g.2193425_2193431del , CM000673.1:g.2193425_2193431del	GRCh37
NC_000011.8:g.2150001_2150007del	NCBI36
NG_008128.1:g.4608_4614del

Transcript Alleles

HGVS	Amino-acid Change
XM_011520335.2:c.-412_-406del	XP_011518637.1:n.-412_-406del