Canonical Allele Identifier: CA65501380

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1036912279
• MyVariant Identifiers: chr2:g.215796988_215796992del (hg19) ; chr2:g.214932264_214932268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932267_214932271del , CM000664.2:g.214932267_214932271del	GRCh38
NC_000002.11:g.215796991_215796995del , CM000664.1:g.215796991_215796995del	GRCh37
NC_000002.10:g.215505236_215505240del	NCBI36
NG_007074.1:g.211160_211164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*366_*370del (ABCA12) MANE Select	ENSP00000272895.7:n.*366_*370del
ENST00000272895.11:c.*366_*370del (ABCA12)	ENSP00000272895.7:n.*366_*370del
NM_015657.3:c.*366_*370del (ABCA12)	NP_056472.2:n.*366_*370del
NM_173076.2:c.*366_*370del (ABCA12)	NP_775099.2:n.*366_*370del
NR_103740.1:n.8454_8458del (ABCA12)
NR_110292.1:n.322-15558_322-15554del (SNHG31)
XM_011510951.1:c.*366_*370del (ABCA12)	XP_011509253.1:n.*366_*370del
XM_011510951.2:c.*366_*370del (ABCA12)	XP_011509253.1:n.*366_*370del
NM_173076.3:c.*366_*370del (ABCA12) MANE Select	NP_775099.2:n.*366_*370del
NR_103740.2:n.8652_8656del (ABCA12)
NM_015657.4:c.*366_*370del (ABCA12)	NP_056472.2:n.*366_*370del