Canonical Allele Identifier: CA2577234582
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944952_214944954del , CM000664.2:g.214944952_214944954del GRCh38
NC_000002.11:g.215809676_215809678del , CM000664.1:g.215809676_215809678del GRCh37
NC_000002.10:g.215517921_215517923del NCBI36
NG_007074.1:g.198474_198476del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7343+47_7343+49del (ABCA12) MANE Select ENSP00000272895.7:n.7343+47_7343+49del
ENST00000272895.11:c.7343+47_7343+49del (ABCA12) ENSP00000272895.7:n.7343+47_7343+49del
ENST00000389661.4:c.6389+47_6389+49del (ABCA12) ENSP00000374312.4:n.6389+47_6389+49del
NM_015657.3:c.6389+47_6389+49del (ABCA12) NP_056472.2:n.6389+47_6389+49del
NM_173076.2:c.7343+47_7343+49del (ABCA12) NP_775099.2:n.7343+47_7343+49del
NR_103740.1:n.7643+47_7643+49del (ABCA12)
NR_110292.1:n.322-2873_322-2871del (SNHG31)
XM_011510951.1:c.7352+47_7352+49del (ABCA12) XP_011509253.1:n.7352+47_7352+49del
XM_011510951.2:c.7352+47_7352+49del (ABCA12) XP_011509253.1:n.7352+47_7352+49del
NM_173076.3:c.7343+47_7343+49del (ABCA12) MANE Select NP_775099.2:n.7343+47_7343+49del
NR_103740.2:n.7841+47_7841+49del (ABCA12)
NM_015657.4:c.6389+47_6389+49del (ABCA12) NP_056472.2:n.6389+47_6389+49del
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