Canonical Allele Identifier: CA620708635

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1490395545 ; rs2141730320
• gnomAD v2: 16-2390773-GAT-G
• gnomAD v3: 16-2340772-GAT-G
• gnomAD v4: 16-2340772-GAT-G
• MyVariant Identifiers: chr16:g.2390774_2390775del (hg19) ; chr16:g.2340773_2340774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340773_2340774del , CM000678.2:g.2340773_2340774del	GRCh38
NC_000016.9:g.2390774_2390775del , CM000678.1:g.2390774_2390775del	GRCh37
NC_000016.8:g.2330775_2330776del	NCBI36
NG_011790.1:g.4973_4974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1442_42+1443del
ENST00000512848.5:n.182+1442_182+1443del