Canonical Allele Identifier: CA1327150007
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

dbSNP Id: rs1698853095
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214953768_214953793del , CM000664.2:g.214953768_214953793del GRCh38
NC_000002.11:g.215818492_215818517del , CM000664.1:g.215818492_215818517del GRCh37
NC_000002.10:g.215526737_215526762del NCBI36
NG_007074.1:g.189635_189660del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.6647+61_6647+86del (ABCA12) MANE Select ENSP00000272895.7:n.6647+61_6647+86del
ENST00000272895.11:c.6647+61_6647+86del (ABCA12) ENSP00000272895.7:n.6647+61_6647+86del
ENST00000389661.4:c.5693+61_5693+86del (ABCA12) ENSP00000374312.4:n.5693+61_5693+86del
NM_015657.3:c.5693+61_5693+86del (ABCA12) NP_056472.2:n.5693+61_5693+86del
NM_173076.2:c.6647+61_6647+86del (ABCA12) NP_775099.2:n.6647+61_6647+86del
NR_103740.1:n.6947+61_6947+86del (ABCA12)
NR_110292.1:n.444+5821_444+5846del (SNHG31)
XM_011510951.1:c.6656+61_6656+86del (ABCA12) XP_011509253.1:n.6656+61_6656+86del
XM_011510951.2:c.6656+61_6656+86del (ABCA12) XP_011509253.1:n.6656+61_6656+86del
NM_173076.3:c.6647+61_6647+86del (ABCA12) MANE Select NP_775099.2:n.6647+61_6647+86del
NR_103740.2:n.7145+61_7145+86del (ABCA12)
NM_015657.4:c.5693+61_5693+86del (ABCA12) NP_056472.2:n.5693+61_5693+86del
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