Canonical Allele Identifier: CA1327147230
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214947402_214947406delinsTTAAA , CM000664.2:g.214947402_214947406delinsTTAAA GRCh38
NC_000002.11:g.215812126_215812130delinsTTAAA , CM000664.1:g.215812126_215812130delinsTTAAA GRCh37
NC_000002.10:g.215520371_215520375delinsTTAAA NCBI36
NG_007074.1:g.196022_196026delinsTTTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7239+16_7239+20delinsTTTAA (ABCA12) MANE Select ENSP00000272895.7:n.7239+16_7239+20delins...
ENST00000272895.11:c.7239+16_7239+20delinsTTTAA (ABCA12) ENSP00000272895.7:n.7239+16_7239+20delins...
ENST00000389661.4:c.6285+16_6285+20delinsTTTAA (ABCA12) ENSP00000374312.4:n.6285+16_6285+20delins...
NM_015657.3:c.6285+16_6285+20delinsTTTAA (ABCA12) NP_056472.2:n.6285+16_6285+20delinsTTTAA
NM_173076.2:c.7239+16_7239+20delinsTTTAA (ABCA12) NP_775099.2:n.7239+16_7239+20delinsTTTAA
NR_103740.1:n.7539+16_7539+20delinsTTTAA (ABCA12)
NR_110292.1:n.322-423_322-419delinsTTAAA (SNHG31)
XM_011510951.1:c.7248+16_7248+20delinsTTTAA (ABCA12) XP_011509253.1:n.7248+16_7248+20delinsTTT...
XM_011510951.2:c.7248+16_7248+20delinsTTTAA (ABCA12) XP_011509253.1:n.7248+16_7248+20delinsTTT...
NM_173076.3:c.7239+16_7239+20delinsTTTAA (ABCA12) MANE Select NP_775099.2:n.7239+16_7239+20delinsTTTAA
NR_103740.2:n.7737+16_7737+20delinsTTTAA (ABCA12)
NM_015657.4:c.6285+16_6285+20delinsTTTAA (ABCA12) NP_056472.2:n.6285+16_6285+20delinsTTTAA