Canonical Allele Identifier: CA1327146114
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

dbSNP Id: rs1698529058
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944862_214944880del , CM000664.2:g.214944862_214944880del GRCh38
NC_000002.11:g.215809586_215809604del , CM000664.1:g.215809586_215809604del GRCh37
NC_000002.10:g.215517831_215517849del NCBI36
NG_007074.1:g.198561_198579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.7343+134_7343+152del (ABCA12) MANE Select ENSP00000272895.7:n.7343+134_7343+152del
ENST00000272895.11:c.7343+134_7343+152del (ABCA12) ENSP00000272895.7:n.7343+134_7343+152del
ENST00000389661.4:c.6389+134_6389+152del (ABCA12) ENSP00000374312.4:n.6389+134_6389+152del
NM_015657.3:c.6389+134_6389+152del (ABCA12) NP_056472.2:n.6389+134_6389+152del
NM_173076.2:c.7343+134_7343+152del (ABCA12) NP_775099.2:n.7343+134_7343+152del
NR_103740.1:n.7643+134_7643+152del (ABCA12)
NR_110292.1:n.322-2963_322-2945del (SNHG31)
XM_011510951.1:c.7352+134_7352+152del (ABCA12) XP_011509253.1:n.7352+134_7352+152del
XM_011510951.2:c.7352+134_7352+152del (ABCA12) XP_011509253.1:n.7352+134_7352+152del
NM_173076.3:c.7343+134_7343+152del (ABCA12) MANE Select NP_775099.2:n.7343+134_7343+152del
NR_103740.2:n.7841+134_7841+152del (ABCA12)
NM_015657.4:c.6389+134_6389+152del (ABCA12) NP_056472.2:n.6389+134_6389+152del
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