Canonical Allele Identifier: CA2662974841
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214944865-G-GTA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944867_214944868dup , CM000664.2:g.214944867_214944868dup GRCh38
NC_000002.11:g.215809591_215809592dup , CM000664.1:g.215809591_215809592dup GRCh37
NC_000002.10:g.215517836_215517837dup NCBI36
NG_007074.1:g.198561_198562dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.7343+134_7343+135dup (ABCA12) MANE Select ENSP00000272895.7:n.7343+134_7343+135dup
ENST00000272895.11:c.7343+134_7343+135dup (ABCA12) ENSP00000272895.7:n.7343+134_7343+135dup
ENST00000389661.4:c.6389+134_6389+135dup (ABCA12) ENSP00000374312.4:n.6389+134_6389+135dup
NM_015657.3:c.6389+134_6389+135dup (ABCA12) NP_056472.2:n.6389+134_6389+135dup
NM_173076.2:c.7343+134_7343+135dup (ABCA12) NP_775099.2:n.7343+134_7343+135dup
NR_103740.1:n.7643+134_7643+135dup (ABCA12)
NR_110292.1:n.322-2958_322-2957dup (SNHG31)
XM_011510951.1:c.7352+134_7352+135dup (ABCA12) XP_011509253.1:n.7352+134_7352+135dup
XM_011510951.2:c.7352+134_7352+135dup (ABCA12) XP_011509253.1:n.7352+134_7352+135dup
NM_173076.3:c.7343+134_7343+135dup (ABCA12) MANE Select NP_775099.2:n.7343+134_7343+135dup
NR_103740.2:n.7841+134_7841+135dup (ABCA12)
NM_015657.4:c.6389+134_6389+135dup (ABCA12) NP_056472.2:n.6389+134_6389+135dup
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