Canonical Allele Identifier: CA1042213949

Gene: ABCA12

Linked Data

• gnomAD v3: 2-215011884-TACTACGA-T
• gnomAD v4: 2-215011884-TACTACGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011885_215011891del , CM000664.2:g.215011885_215011891del	GRCh38
NC_000002.11:g.215876609_215876615del , CM000664.1:g.215876609_215876615del	GRCh37
NC_000002.10:g.215584854_215584860del	NCBI36
NG_007074.1:g.131537_131543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+80_2121+86del MANE Select	ENSP00000272895.7:n.2121+80_2121+86del
ENST00000272895.11:c.2121+80_2121+86del	ENSP00000272895.7:n.2121+80_2121+86del
ENST00000389661.4:c.1167+80_1167+86del	ENSP00000374312.4:n.1167+80_1167+86del
NM_015657.3:c.1167+80_1167+86del	NP_056472.2:n.1167+80_1167+86del
NM_173076.2:c.2121+80_2121+86del	NP_775099.2:n.2121+80_2121+86del
NR_103740.1:n.2365+80_2365+86del
XM_011510951.1:c.2121+80_2121+86del	XP_011509253.1:n.2121+80_2121+86del
XM_011510952.1:c.2121+80_2121+86del	XP_011509254.1:n.2121+80_2121+86del
XM_011510951.2:c.2121+80_2121+86del	XP_011509253.1:n.2121+80_2121+86del
NM_173076.3:c.2121+80_2121+86del MANE Select	NP_775099.2:n.2121+80_2121+86del
NR_103740.2:n.2563+80_2563+86del
NM_015657.4:c.1167+80_1167+86del	NP_056472.2:n.1167+80_1167+86del