Canonical Allele Identifier: CA1042213935

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011882-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011883del , CM000664.2:g.215011883del	GRCh38
NC_000002.11:g.215876607del , CM000664.1:g.215876607del	GRCh37
NC_000002.10:g.215584852del	NCBI36
NG_007074.1:g.131545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+88del MANE Select	ENSP00000272895.7:n.2121+88del
ENST00000272895.11:c.2121+88del	ENSP00000272895.7:n.2121+88del
ENST00000389661.4:c.1167+88del	ENSP00000374312.4:n.1167+88del
NM_015657.3:c.1167+88del	NP_056472.2:n.1167+88del
NM_173076.2:c.2121+88del	NP_775099.2:n.2121+88del
NR_103740.1:n.2365+88del
XM_011510951.1:c.2121+88del	XP_011509253.1:n.2121+88del
XM_011510952.1:c.2121+88del	XP_011509254.1:n.2121+88del
XM_011510951.2:c.2121+88del	XP_011509253.1:n.2121+88del
NM_173076.3:c.2121+88del MANE Select	NP_775099.2:n.2121+88del
NR_103740.2:n.2563+88del
NM_015657.4:c.1167+88del	NP_056472.2:n.1167+88del