Canonical Allele Identifier: CA719188573

Gene: ABCA17P

Linked Data

• dbSNP Id: rs1168468683
• gnomAD v3: 16-2340791-G-GCCGCCCCTGCAGGTGCCCGGT
• gnomAD v4: 16-2340791-G-GCCGCCCCTGCAGGTGCCCGGT
• MyVariant Identifiers: chr16:g.2390792_2390793insCCGCCCCTGCAGGTGCCCGGT (hg19) ; chr16:g.2340791_2340792insCCGCCCCTGCAGGTGCCCGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340794_2340814dup , CM000678.2:g.2340794_2340814dup	GRCh38
NC_000016.9:g.2390795_2390815dup , CM000678.1:g.2390795_2390815dup	GRCh37
NC_000016.8:g.2330796_2330816dup	NCBI36
NG_011790.1:g.4935_4955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640929.1:n.42+1463_42+1483dup
ENST00000512848.5:n.182+1463_182+1483dup