Canonical Allele Identifier: CA2662978951

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214991120-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214991120_214991121insCAG , CM000664.2:g.214991120_214991121insCAG	GRCh38
NC_000002.11:g.215855844_215855845insCAG , CM000664.1:g.215855844_215855845insCAG	GRCh37
NC_000002.10:g.215564089_215564090insCAG	NCBI36
NG_007074.1:g.152307_152308insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3295-90_3295-89insCTG MANE Select	ENSP00000272895.7:n.3295-90_3295-89insCTG
ENST00000272895.11:c.3295-90_3295-89insCTG	ENSP00000272895.7:n.3295-90_3295-89insCTG
ENST00000389661.4:c.2341-90_2341-89insCTG	ENSP00000374312.4:n.2341-90_2341-89insCTG
NM_015657.3:c.2341-90_2341-89insCTG	NP_056472.2:n.2341-90_2341-89insCTG
NM_173076.2:c.3295-90_3295-89insCTG	NP_775099.2:n.3295-90_3295-89insCTG
NR_103740.1:n.3595-90_3595-89insCTG
XM_011510951.1:c.3295-90_3295-89insCTG	XP_011509253.1:n.3295-90_3295-89insCTG
XM_011510952.1:c.3295-90_3295-89insCTG	XP_011509254.1:n.3295-90_3295-89insCTG
XM_011510951.2:c.3295-90_3295-89insCTG	XP_011509253.1:n.3295-90_3295-89insCTG
NM_173076.3:c.3295-90_3295-89insCTG MANE Select	NP_775099.2:n.3295-90_3295-89insCTG
NR_103740.2:n.3793-90_3793-89insCTG
NM_015657.4:c.2341-90_2341-89insCTG	NP_056472.2:n.2341-90_2341-89insCTG