Canonical Allele Identifier: CA2272580290

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253944_69253947delinsATGT , CM000679.2:g.69253944_69253947delinsATGT	GRCh38
NC_000017.10:g.67250085_67250088delinsATGT , CM000679.1:g.67250085_67250088delinsATGT	GRCh37
NC_000017.9:g.64761680_64761683delinsATGT	NCBI36
NG_034199.1:g.78236_78239delinsACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-78_4245-75delinsACAT MANE Select	ENSP00000376443.2:n.4245-78_4245-75delinsACAT
ENST00000392676.7:c.4245-78_4245-75delinsACAT	ENSP00000376443.2:n.4245-78_4245-75delinsACAT
ENST00000586811.1:c.1143-78_1143-75delinsACAT	ENSP00000465351.1:n.1143-78_1143-75delinsACAT
ENST00000586995.5:c.3307-78_3307-75delinsACAT	ENSP00000467251.1:n.3307-78_3307-75delinsACAT
ENST00000588877.5:c.4245-78_4245-75delinsACAT	ENSP00000467882.1:n.4245-78_4245-75delinsACAT
ENST00000591234.5:c.2187-78_2187-75delinsACAT	ENSP00000465766.1:n.2187-78_2187-75delinsACAT
NM_018672.4:c.4245-78_4245-75delinsACAT	NP_061142.2:n.4245-78_4245-75delinsACAT
NM_172232.3:c.4245-78_4245-75delinsACAT	NP_758424.1:n.4245-78_4245-75delinsACAT
NM_172232.4:c.4245-78_4245-75delinsACAT MANE Select	NP_758424.1:n.4245-78_4245-75delinsACAT
NM_018672.5:c.4245-78_4245-75delinsACAT	NP_061142.2:n.4245-78_4245-75delinsACAT