Canonical Allele Identifier: CA2662978476

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980580-GCGATGCGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980582_214980590del , CM000664.2:g.214980582_214980590del	GRCh38
NC_000002.11:g.215845306_215845314del , CM000664.1:g.215845306_215845314del	GRCh37
NC_000002.10:g.215553551_215553559del	NCBI36
NG_007074.1:g.162839_162847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4634_4642del MANE Select	ENSP00000272895.7:p.Asp1545_Ile1547del
ENST00000272895.11:c.4634_4642del	ENSP00000272895.7:p.Asp1545_Ile1547del
ENST00000389661.4:c.3680_3688del	ENSP00000374312.4:p.Asp1227_Ile1229del
NM_015657.3:c.3680_3688del	NP_056472.2:p.Asp1227_Ile1229del
NM_173076.2:c.4634_4642del	NP_775099.2:p.Asp1545_Ile1547del
NR_103740.1:n.4934_4942del
XM_011510951.1:c.4643_4651del	XP_011509253.1:p.Asp1548_Ile1550del
XM_011510952.1:c.4643_4651del	XP_011509254.1:p.Asp1548_Ile1550del
XM_011510951.2:c.4643_4651del	XP_011509253.1:p.Asp1548_Ile1550del
NM_173076.3:c.4634_4642del MANE Select	NP_775099.2:p.Asp1545_Ile1547del
NR_103740.2:n.5132_5140del
NM_015657.4:c.3680_3688del	NP_056472.2:p.Asp1227_Ile1229del