Canonical Allele Identifier: CA1086018043

Gene:

Linked Data

• dbSNP Id: rs1766143670
• gnomAD v3: 6-11943712-T-TTC
• gnomAD v4: 6-11943712-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.11943714_11943715dup , CM000668.2:g.11943714_11943715dup	GRCh38
NC_000006.11:g.11943947_11943948dup , CM000668.1:g.11943947_11943948dup	GRCh37
NC_000006.10:g.12051933_12051934dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001743976.1:n.348-7821_348-7820dup