Canonical Allele Identifier: CA973792149

Gene: ABCA17P

Linked Data

• dbSNP Id: rs2093760664
• gnomAD v3: 16-2340904-CTGACT-C
• gnomAD v4: 16-2340904-CTGACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340907_2340911del , CM000678.2:g.2340907_2340911del	GRCh38
NC_000016.9:g.2390908_2390912del , CM000678.1:g.2390908_2390912del	GRCh37
NC_000016.8:g.2330909_2330913del	NCBI36
NG_011790.1:g.4838_4842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1576_42+1580del
ENST00000512848.5:n.182+1576_182+1580del