Canonical Allele Identifier: CA2577235310

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011876-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011876_215011877insC , CM000664.2:g.215011876_215011877insC	GRCh38
NC_000002.11:g.215876600_215876601insC , CM000664.1:g.215876600_215876601insC	GRCh37
NC_000002.10:g.215584845_215584846insC	NCBI36
NG_007074.1:g.131551_131552insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+94_2121+95insG MANE Select	ENSP00000272895.7:n.2121+94_2121+95insG
ENST00000272895.11:c.2121+94_2121+95insG	ENSP00000272895.7:n.2121+94_2121+95insG
ENST00000389661.4:c.1167+94_1167+95insG	ENSP00000374312.4:n.1167+94_1167+95insG
NM_015657.3:c.1167+94_1167+95insG	NP_056472.2:n.1167+94_1167+95insG
NM_173076.2:c.2121+94_2121+95insG	NP_775099.2:n.2121+94_2121+95insG
NR_103740.1:n.2365+94_2365+95insG
XM_011510951.1:c.2121+94_2121+95insG	XP_011509253.1:n.2121+94_2121+95insG
XM_011510952.1:c.2121+94_2121+95insG	XP_011509254.1:n.2121+94_2121+95insG
XM_011510951.2:c.2121+94_2121+95insG	XP_011509253.1:n.2121+94_2121+95insG
NM_173076.3:c.2121+94_2121+95insG MANE Select	NP_775099.2:n.2121+94_2121+95insG
NR_103740.2:n.2563+94_2563+95insG
NM_015657.4:c.1167+94_1167+95insG	NP_056472.2:n.1167+94_1167+95insG