Canonical Allele Identifier: CA2202158196

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2299681_2299691delinsTGCTGCTCCTG , CM000678.2:g.2299681_2299691delinsTGCTGCTCCTG	GRCh38
NC_000016.9:g.2349682_2349692delinsTGCTGCTCCTG , CM000678.1:g.2349682_2349692delinsTGCTGCTCCTG	GRCh37
NC_000016.8:g.2289683_2289693delinsTGCTGCTCCTG	NCBI36
NG_011790.1:g.46056_46066delinsCAGGAGCAGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.1612-159_1612-149delinsCAGGAGCAGCA MANE Select	ENSP00000301732.5:n.1612-159_1612-149delinsCAGGAGCAGCA
ENST00000301732.9:c.1612-159_1612-149delinsCAGGAGCAGCA	ENSP00000301732.5:n.1612-159_1612-149delinsCAGGAGCAGCA
ENST00000382381.7:c.1438-159_1438-149delinsCAGGAGCAGCA	ENSP00000371818.3:n.1438-159_1438-149delinsCAGGAGCAGCA
ENST00000563623.5:n.2175-159_2175-149delinsCAGGAGCAGCA
NM_001089.2:c.1612-159_1612-149delinsCAGGAGCAGCA	NP_001080.2:n.1612-159_1612-149delinsCAGGAGCAGCA
NM_001089.3:c.1612-159_1612-149delinsCAGGAGCAGCA MANE Select	NP_001080.2:n.1612-159_1612-149delinsCAGGAGCAGCA