Canonical Allele Identifier: CA2662980672

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011881-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011881_215011882insATT , CM000664.2:g.215011881_215011882insATT	GRCh38
NC_000002.11:g.215876605_215876606insATT , CM000664.1:g.215876605_215876606insATT	GRCh37
NC_000002.10:g.215584850_215584851insATT	NCBI36
NG_007074.1:g.131546_131547insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+89_2121+90insAAT MANE Select	ENSP00000272895.7:n.2121+89_2121+90insAAT
ENST00000272895.11:c.2121+89_2121+90insAAT	ENSP00000272895.7:n.2121+89_2121+90insAAT
ENST00000389661.4:c.1167+89_1167+90insAAT	ENSP00000374312.4:n.1167+89_1167+90insAAT
NM_015657.3:c.1167+89_1167+90insAAT	NP_056472.2:n.1167+89_1167+90insAAT
NM_173076.2:c.2121+89_2121+90insAAT	NP_775099.2:n.2121+89_2121+90insAAT
NR_103740.1:n.2365+89_2365+90insAAT
XM_011510951.1:c.2121+89_2121+90insAAT	XP_011509253.1:n.2121+89_2121+90insAAT
XM_011510952.1:c.2121+89_2121+90insAAT	XP_011509254.1:n.2121+89_2121+90insAAT
XM_011510951.2:c.2121+89_2121+90insAAT	XP_011509253.1:n.2121+89_2121+90insAAT
NM_173076.3:c.2121+89_2121+90insAAT MANE Select	NP_775099.2:n.2121+89_2121+90insAAT
NR_103740.2:n.2563+89_2563+90insAAT
NM_015657.4:c.1167+89_1167+90insAAT	NP_056472.2:n.1167+89_1167+90insAAT