Canonical Allele Identifier: CA2754208947
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944864_214944918del , CM000664.2:g.214944864_214944918del GRCh38
NC_000002.11:g.215809588_215809642del , CM000664.1:g.215809588_215809642del GRCh37
NC_000002.10:g.215517833_215517887del NCBI36
NG_007074.1:g.198523_198577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.7343+96_7343+150del (ABCA12) MANE Select ENSP00000272895.7:n.7343+96_7343+150del
ENST00000272895.11:c.7343+96_7343+150del (ABCA12) ENSP00000272895.7:n.7343+96_7343+150del
ENST00000389661.4:c.6389+96_6389+150del (ABCA12) ENSP00000374312.4:n.6389+96_6389+150del
NM_015657.3:c.6389+96_6389+150del (ABCA12) NP_056472.2:n.6389+96_6389+150del
NM_173076.2:c.7343+96_7343+150del (ABCA12) NP_775099.2:n.7343+96_7343+150del
NR_103740.1:n.7643+96_7643+150del (ABCA12)
NR_110292.1:n.322-2961_322-2907del (SNHG31)
XM_011510951.1:c.7352+96_7352+150del (ABCA12) XP_011509253.1:n.7352+96_7352+150del
XM_011510951.2:c.7352+96_7352+150del (ABCA12) XP_011509253.1:n.7352+96_7352+150del
NM_173076.3:c.7343+96_7343+150del (ABCA12) MANE Select NP_775099.2:n.7343+96_7343+150del
NR_103740.2:n.7841+96_7841+150del (ABCA12)
NM_015657.4:c.6389+96_6389+150del (ABCA12) NP_056472.2:n.6389+96_6389+150del
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