Canonical Allele Identifier: CA764607347

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1224785823
• MyVariant Identifiers: chr2:g.215818568_215818573del (hg19) ; chr2:g.214953844_214953849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953847_214953852del , CM000664.2:g.214953847_214953852del	GRCh38
NC_000002.11:g.215818571_215818576del , CM000664.1:g.215818571_215818576del	GRCh37
NC_000002.10:g.215526816_215526821del	NCBI36
NG_007074.1:g.189579_189584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6647+5_6647+10del (ABCA12) MANE Select	ENSP00000272895.7:n.6647+5_6647+10del
ENST00000272895.11:c.6647+5_6647+10del (ABCA12)	ENSP00000272895.7:n.6647+5_6647+10del
ENST00000389661.4:c.5693+5_5693+10del (ABCA12)	ENSP00000374312.4:n.5693+5_5693+10del
NM_015657.3:c.5693+5_5693+10del (ABCA12)	NP_056472.2:n.5693+5_5693+10del
NM_173076.2:c.6647+5_6647+10del (ABCA12)	NP_775099.2:n.6647+5_6647+10del
NR_103740.1:n.6947+5_6947+10del (ABCA12)
NR_110292.1:n.444+5900_444+5905del (SNHG31)
XM_011510951.1:c.6656+5_6656+10del (ABCA12)	XP_011509253.1:n.6656+5_6656+10del
XM_011510951.2:c.6656+5_6656+10del (ABCA12)	XP_011509253.1:n.6656+5_6656+10del
NM_173076.3:c.6647+5_6647+10del (ABCA12) MANE Select	NP_775099.2:n.6647+5_6647+10del
NR_103740.2:n.7145+5_7145+10del (ABCA12)
NM_015657.4:c.5693+5_5693+10del (ABCA12)	NP_056472.2:n.5693+5_5693+10del