Canonical Allele Identifier: CA620708643

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1444428395 ; rs2141730404
• gnomAD v2: 16-2390823-GC-G
• gnomAD v3: 16-2340822-GC-G
• gnomAD v4: 16-2340822-GC-G
• MyVariant Identifiers: chr16:g.2390824del (hg19) ; chr16:g.2340823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340824del , CM000678.2:g.2340824del	GRCh38
NC_000016.9:g.2390825del , CM000678.1:g.2390825del	GRCh37
NC_000016.8:g.2330826del	NCBI36
NG_011790.1:g.4924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1493del
ENST00000512848.5:n.182+1493del