Canonical Allele Identifier: CA586249536

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs1418400530
• gnomAD v2: 9-15120549-TGTG-T
• gnomAD v3: 9-15120551-TGTG-T
• gnomAD v4: 9-15120551-TGTG-T
• MyVariant Identifiers: chr9:g.15120550_15120552del (hg19) ; chr9:g.15120552_15120554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120555_15120557del , CM000671.2:g.15120555_15120557del	GRCh38
NC_000009.11:g.15120553_15120555del , CM000671.1:g.15120553_15120555del	GRCh37
NC_000009.10:g.15110553_15110555del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609203.1:n.549+5176_549+5178del