Canonical Allele Identifier: CA2091405

Gene: ABCA12

Linked Data

• dbSNP Id: rs768669024
• ExAC: 2:215845206 CCTT / C
• gnomAD v2: 2-215845206-CCTT-C
• gnomAD v3: 2-214980482-CCTT-C
• gnomAD v4: 2-214980482-CCTT-C
• MyVariant Identifiers: chr2:g.215845207_215845209del (hg19) ; chr2:g.214980483_214980485del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980489_214980491del , CM000664.2:g.214980489_214980491del	GRCh38
NC_000002.11:g.215845213_215845215del , CM000664.1:g.215845213_215845215del	GRCh37
NC_000002.10:g.215553458_215553460del	NCBI36
NG_007074.1:g.162943_162945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4738_4740del MANE Select	ENSP00000272895.7:p.Lys1580del
ENST00000272895.11:c.4738_4740del	ENSP00000272895.7:p.Lys1580del
ENST00000389661.4:c.3784_3786del	ENSP00000374312.4:p.Lys1262del
NM_015657.3:c.3784_3786del	NP_056472.2:p.Lys1262del
NM_173076.2:c.4738_4740del	NP_775099.2:p.Lys1580del
NR_103740.1:n.5038_5040del
XM_011510951.1:c.4747_4749del	XP_011509253.1:p.Lys1583del
XM_011510952.1:c.4747_4749del	XP_011509254.1:p.Lys1583del
XM_011510951.2:c.4747_4749del	XP_011509253.1:p.Lys1583del
NM_173076.3:c.4738_4740del MANE Select	NP_775099.2:p.Lys1580del
NR_103740.2:n.5236_5238del
NM_015657.4:c.3784_3786del	NP_056472.2:p.Lys1262del