Canonical Allele Identifier: CA2754208661
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932048_214932051del , CM000664.2:g.214932048_214932051del GRCh38
NC_000002.11:g.215796772_215796775del , CM000664.1:g.215796772_215796775del GRCh37
NC_000002.10:g.215505017_215505020del NCBI36
NG_007074.1:g.211377_211380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*583_*586del (ABCA12) MANE Select ENSP00000272895.7:n.*583_*586del
ENST00000272895.11:c.*583_*586del (ABCA12) ENSP00000272895.7:n.*583_*586del
NM_015657.3:c.*583_*586del (ABCA12) NP_056472.2:n.*583_*586del
NM_173076.2:c.*583_*586del (ABCA12) NP_775099.2:n.*583_*586del
NR_103740.1:n.8671_8674del (ABCA12)
NR_110292.1:n.322-15777_322-15774del (SNHG31)
XM_011510951.1:c.*583_*586del (ABCA12) XP_011509253.1:n.*583_*586del
XM_011510951.2:c.*583_*586del (ABCA12) XP_011509253.1:n.*583_*586del
NM_173076.3:c.*583_*586del (ABCA12) MANE Select NP_775099.2:n.*583_*586del
NR_103740.2:n.8869_8872del (ABCA12)
NM_015657.4:c.*583_*586del (ABCA12) NP_056472.2:n.*583_*586del