Canonical Allele Identifier: CA1327147231
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

dbSNP Id: rs1698616364

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214947406_214947409del , CM000664.2:g.214947406_214947409del GRCh38
NC_000002.11:g.215812130_215812133del , CM000664.1:g.215812130_215812133del GRCh37
NC_000002.10:g.215520375_215520378del NCBI36
NG_007074.1:g.196022_196025del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7239+16_7239+19del (ABCA12) MANE Select ENSP00000272895.7:n.7239+16_7239+19del
ENST00000272895.11:c.7239+16_7239+19del (ABCA12) ENSP00000272895.7:n.7239+16_7239+19del
ENST00000389661.4:c.6285+16_6285+19del (ABCA12) ENSP00000374312.4:n.6285+16_6285+19del
NM_015657.3:c.6285+16_6285+19del (ABCA12) NP_056472.2:n.6285+16_6285+19del
NM_173076.2:c.7239+16_7239+19del (ABCA12) NP_775099.2:n.7239+16_7239+19del
NR_103740.1:n.7539+16_7539+19del (ABCA12)
NR_110292.1:n.322-419_322-416del (SNHG31)
XM_011510951.1:c.7248+16_7248+19del (ABCA12) XP_011509253.1:n.7248+16_7248+19del
XM_011510951.2:c.7248+16_7248+19del (ABCA12) XP_011509253.1:n.7248+16_7248+19del
NM_173076.3:c.7239+16_7239+19del (ABCA12) MANE Select NP_775099.2:n.7239+16_7239+19del
NR_103740.2:n.7737+16_7737+19del (ABCA12)
NM_015657.4:c.6285+16_6285+19del (ABCA12) NP_056472.2:n.6285+16_6285+19del