Canonical Allele Identifier: CA1327140569

Gene: ABCA12 SNHG31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932112_214932116delinsTTGTG , CM000664.2:g.214932112_214932116delinsTTGTG	GRCh38
NC_000002.11:g.215796836_215796840delinsTTGTG , CM000664.1:g.215796836_215796840delinsTTGTG	GRCh37
NC_000002.10:g.215505081_215505085delinsTTGTG	NCBI36
NG_007074.1:g.211312_211316delinsCACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*518_*522delinsCACAA (ABCA12) MANE Select	ENSP00000272895.7:n.*518_*522delinsCACAA
ENST00000272895.11:c.*518_*522delinsCACAA (ABCA12)	ENSP00000272895.7:n.*518_*522delinsCACAA
NM_015657.3:c.*518_*522delinsCACAA (ABCA12)	NP_056472.2:n.*518_*522delinsCACAA
NM_173076.2:c.*518_*522delinsCACAA (ABCA12)	NP_775099.2:n.*518_*522delinsCACAA
NR_103740.1:n.8606_8610delinsCACAA (ABCA12)
NR_110292.1:n.322-15713_322-15709delinsTTGTG (SNHG31)
XM_011510951.1:c.*518_*522delinsCACAA (ABCA12)	XP_011509253.1:n.*518_*522delinsCACAA
XM_011510951.2:c.*518_*522delinsCACAA (ABCA12)	XP_011509253.1:n.*518_*522delinsCACAA
NM_173076.3:c.*518_*522delinsCACAA (ABCA12) MANE Select	NP_775099.2:n.*518_*522delinsCACAA
NR_103740.2:n.8804_8808delinsCACAA (ABCA12)
NM_015657.4:c.*518_*522delinsCACAA (ABCA12)	NP_056472.2:n.*518_*522delinsCACAA