Canonical Allele Identifier: CA2662980157

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011290-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011290_215011291insC , CM000664.2:g.215011290_215011291insC	GRCh38
NC_000002.11:g.215876014_215876015insC , CM000664.1:g.215876014_215876015insC	GRCh37
NC_000002.10:g.215584259_215584260insC	NCBI36
NG_007074.1:g.132137_132138insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2332+148_2332+149insG MANE Select	ENSP00000272895.7:n.2332+148_2332+149insG
ENST00000272895.11:c.2332+148_2332+149insG	ENSP00000272895.7:n.2332+148_2332+149insG
ENST00000389661.4:c.1378+148_1378+149insG	ENSP00000374312.4:n.1378+148_1378+149insG
NM_015657.3:c.1378+148_1378+149insG	NP_056472.2:n.1378+148_1378+149insG
NM_173076.2:c.2332+148_2332+149insG	NP_775099.2:n.2332+148_2332+149insG
NR_103740.1:n.2576+148_2576+149insG
XM_011510951.1:c.2332+148_2332+149insG	XP_011509253.1:n.2332+148_2332+149insG
XM_011510952.1:c.2332+148_2332+149insG	XP_011509254.1:n.2332+148_2332+149insG
XM_011510951.2:c.2332+148_2332+149insG	XP_011509253.1:n.2332+148_2332+149insG
NM_173076.3:c.2332+148_2332+149insG MANE Select	NP_775099.2:n.2332+148_2332+149insG
NR_103740.2:n.2774+148_2774+149insG
NM_015657.4:c.1378+148_1378+149insG	NP_056472.2:n.1378+148_1378+149insG