Canonical Allele Identifier: CA1327160958
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1699621141

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980455_214980457del , CM000664.2:g.214980455_214980457del GRCh38
NC_000002.11:g.215845179_215845181del , CM000664.1:g.215845179_215845181del GRCh37
NC_000002.10:g.215553424_215553426del NCBI36
NG_007074.1:g.162973_162975del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4740+28_4740+30del MANE Select ENSP00000272895.7:n.4740+28_4740+30del
ENST00000272895.11:c.4740+28_4740+30del ENSP00000272895.7:n.4740+28_4740+30del
ENST00000389661.4:c.3786+28_3786+30del ENSP00000374312.4:n.3786+28_3786+30del
NM_015657.3:c.3786+28_3786+30del NP_056472.2:n.3786+28_3786+30del
NM_173076.2:c.4740+28_4740+30del NP_775099.2:n.4740+28_4740+30del
NR_103740.1:n.5040+28_5040+30del
XM_011510951.1:c.4749+28_4749+30del XP_011509253.1:n.4749+28_4749+30del
XM_011510952.1:c.4749+28_4749+30del XP_011509254.1:n.4749+28_4749+30del
XM_011510951.2:c.4749+28_4749+30del XP_011509253.1:n.4749+28_4749+30del
NM_173076.3:c.4740+28_4740+30del MANE Select NP_775099.2:n.4740+28_4740+30del
NR_103740.2:n.5238+28_5238+30del
NM_015657.4:c.3786+28_3786+30del NP_056472.2:n.3786+28_3786+30del