Canonical Allele Identifier: CA620708633

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1225450748 ; rs2141730251
• gnomAD v2: 16-2390756-CTGCAGGGGGCGCCGCGGATGGCGCG-C
• gnomAD v3: 16-2340755-CTGCAGGGGGCGCCGCGGATGGCGCG-C
• gnomAD v4: 16-2340755-CTGCAGGGGGCGCCGCGGATGGCGCG-C
• MyVariant Identifiers: chr16:g.2390757_2390781del (hg19) ; chr16:g.2340756_2340780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340759_2340783del , CM000678.2:g.2340759_2340783del	GRCh38
NC_000016.9:g.2390760_2390784del , CM000678.1:g.2390760_2390784del	GRCh37
NC_000016.8:g.2330761_2330785del	NCBI36
NG_011790.1:g.4967_4991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1428_42+1452del
ENST00000512848.5:n.182+1428_182+1452del