Canonical Allele Identifier: CA2662980597

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011862-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011864_215011865insTTT , CM000664.2:g.215011864_215011865insTTT	GRCh38
NC_000002.11:g.215876588_215876589insTTT , CM000664.1:g.215876588_215876589insTTT	GRCh37
NC_000002.10:g.215584833_215584834insTTT	NCBI36
NG_007074.1:g.131565_131566insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+108_2121+109insAAA MANE Select	ENSP00000272895.7:n.2121+108_2121+109insAAA
ENST00000272895.11:c.2121+108_2121+109insAAA	ENSP00000272895.7:n.2121+108_2121+109insAAA
ENST00000389661.4:c.1167+108_1167+109insAAA	ENSP00000374312.4:n.1167+108_1167+109insAAA
NM_015657.3:c.1167+108_1167+109insAAA	NP_056472.2:n.1167+108_1167+109insAAA
NM_173076.2:c.2121+108_2121+109insAAA	NP_775099.2:n.2121+108_2121+109insAAA
NR_103740.1:n.2365+108_2365+109insAAA
XM_011510951.1:c.2121+108_2121+109insAAA	XP_011509253.1:n.2121+108_2121+109insAAA
XM_011510952.1:c.2121+108_2121+109insAAA	XP_011509254.1:n.2121+108_2121+109insAAA
XM_011510951.2:c.2121+108_2121+109insAAA	XP_011509253.1:n.2121+108_2121+109insAAA
NM_173076.3:c.2121+108_2121+109insAAA MANE Select	NP_775099.2:n.2121+108_2121+109insAAA
NR_103740.2:n.2563+108_2563+109insAAA
NM_015657.4:c.1167+108_1167+109insAAA	NP_056472.2:n.1167+108_1167+109insAAA