Canonical Allele Identifier: CA2662980660

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011870-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011870_215011871insC , CM000664.2:g.215011870_215011871insC	GRCh38
NC_000002.11:g.215876594_215876595insC , CM000664.1:g.215876594_215876595insC	GRCh37
NC_000002.10:g.215584839_215584840insC	NCBI36
NG_007074.1:g.131557_131558insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+100_2121+101insG MANE Select	ENSP00000272895.7:n.2121+100_2121+101insG
ENST00000272895.11:c.2121+100_2121+101insG	ENSP00000272895.7:n.2121+100_2121+101insG
ENST00000389661.4:c.1167+100_1167+101insG	ENSP00000374312.4:n.1167+100_1167+101insG
NM_015657.3:c.1167+100_1167+101insG	NP_056472.2:n.1167+100_1167+101insG
NM_173076.2:c.2121+100_2121+101insG	NP_775099.2:n.2121+100_2121+101insG
NR_103740.1:n.2365+100_2365+101insG
XM_011510951.1:c.2121+100_2121+101insG	XP_011509253.1:n.2121+100_2121+101insG
XM_011510952.1:c.2121+100_2121+101insG	XP_011509254.1:n.2121+100_2121+101insG
XM_011510951.2:c.2121+100_2121+101insG	XP_011509253.1:n.2121+100_2121+101insG
NM_173076.3:c.2121+100_2121+101insG MANE Select	NP_775099.2:n.2121+100_2121+101insG
NR_103740.2:n.2563+100_2563+101insG
NM_015657.4:c.1167+100_1167+101insG	NP_056472.2:n.1167+100_1167+101insG