Canonical Allele Identifier: CA2091405
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs768669024

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