Canonical Allele Identifier: CA861404974

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs1356190611
• gnomAD v3: 9-15120518-ATACCCAG-A
• gnomAD v4: 9-15120518-ATACCCAG-A
• MyVariant Identifiers: chr9:g.15120517_15120523del (hg19) ; chr9:g.15120519_15120525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120519_15120525del , CM000671.2:g.15120519_15120525del	GRCh38
NC_000009.11:g.15120517_15120523del , CM000671.1:g.15120517_15120523del	GRCh37
NC_000009.10:g.15110517_15110523del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609203.1:n.549+5205_549+5211del