Canonical Allele Identifier: CA2202178636

Gene: ABCA3 ABCA17P

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340602_2340604delinsGGC , CM000678.2:g.2340602_2340604delinsGGC	GRCh38
NC_000016.9:g.2390603_2390605delinsGGC , CM000678.1:g.2390603_2390605delinsGGC	GRCh37
NC_000016.8:g.2330604_2330606delinsGGC	NCBI36
NG_011790.1:g.5143_5145delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-570_-568delinsGCC (ABCA3) MANE Select	ENSP00000301732.5:n.-570_-568delinsGCC
ENST00000640929.1:n.42+1271_42+1273delinsGGC (ABCA17P)
ENST00000301732.9:c.-570_-568delinsGCC (ABCA3)	ENSP00000301732.5:n.-570_-568delinsGCC
ENST00000382381.7:c.-570_-568delinsGCC (ABCA3)	ENSP00000371818.3:n.-570_-568delinsGCC
ENST00000512848.5:n.182+1271_182+1273delinsGGC (ABCA17P)
NM_001089.2:c.-570_-568delinsGCC (ABCA3)	NP_001080.2:n.-570_-568delinsGCC
NM_001089.3:c.-570_-568delinsGCC (ABCA3) MANE Select	NP_001080.2:n.-570_-568delinsGCC