Canonical Allele Identifier: CA1327140813
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

dbSNP Id: rs1698085123

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932344_214932346dup , CM000664.2:g.214932344_214932346dup GRCh38
NC_000002.11:g.215797068_215797070dup , CM000664.1:g.215797068_215797070dup GRCh37
NC_000002.10:g.215505313_215505315dup NCBI36
NG_007074.1:g.211082_211084dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*288_*290dup (ABCA12) MANE Select ENSP00000272895.7:n.*288_*290dup
ENST00000272895.11:c.*288_*290dup (ABCA12) ENSP00000272895.7:n.*288_*290dup
NM_015657.3:c.*288_*290dup (ABCA12) NP_056472.2:n.*288_*290dup
NM_173076.2:c.*288_*290dup (ABCA12) NP_775099.2:n.*288_*290dup
NR_103740.1:n.8376_8378dup (ABCA12)
NR_110292.1:n.322-15481_322-15479dup (SNHG31)
XM_011510951.1:c.*288_*290dup (ABCA12) XP_011509253.1:n.*288_*290dup
XM_011510951.2:c.*288_*290dup (ABCA12) XP_011509253.1:n.*288_*290dup
NM_173076.3:c.*288_*290dup (ABCA12) MANE Select NP_775099.2:n.*288_*290dup
NR_103740.2:n.8574_8576dup (ABCA12)
NM_015657.4:c.*288_*290dup (ABCA12) NP_056472.2:n.*288_*290dup