Canonical Allele Identifier: CA1327174058

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011346_215011350delinsATACT , CM000664.2:g.215011346_215011350delinsATACT	GRCh38
NC_000002.11:g.215876070_215876074delinsATACT , CM000664.1:g.215876070_215876074delinsATACT	GRCh37
NC_000002.10:g.215584315_215584319delinsATACT	NCBI36
NG_007074.1:g.132078_132082delinsAGTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+89_2332+93delinsAGTAT MANE Select	ENSP00000272895.7:n.2332+89_2332+93delins...
ENST00000272895.11:c.2332+89_2332+93delinsAGTAT	ENSP00000272895.7:n.2332+89_2332+93delins...
ENST00000389661.4:c.1378+89_1378+93delinsAGTAT	ENSP00000374312.4:n.1378+89_1378+93delins...
NM_015657.3:c.1378+89_1378+93delinsAGTAT	NP_056472.2:n.1378+89_1378+93delinsAGTAT
NM_173076.2:c.2332+89_2332+93delinsAGTAT	NP_775099.2:n.2332+89_2332+93delinsAGTAT
NR_103740.1:n.2576+89_2576+93delinsAGTAT
XM_011510951.1:c.2332+89_2332+93delinsAGTAT	XP_011509253.1:n.2332+89_2332+93delinsAGT...
XM_011510952.1:c.2332+89_2332+93delinsAGTAT	XP_011509254.1:n.2332+89_2332+93delinsAGT...
XM_011510951.2:c.2332+89_2332+93delinsAGTAT	XP_011509253.1:n.2332+89_2332+93delinsAGT...
NM_173076.3:c.2332+89_2332+93delinsAGTAT MANE Select	NP_775099.2:n.2332+89_2332+93delinsAGTAT
NR_103740.2:n.2774+89_2774+93delinsAGTAT
NM_015657.4:c.1378+89_1378+93delinsAGTAT	NP_056472.2:n.1378+89_1378+93delinsAGTAT