Canonical Allele Identifier: CA1327147235
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214947416_214947421delinsTCTTAC , CM000664.2:g.214947416_214947421delinsTCTTAC GRCh38
NC_000002.11:g.215812140_215812145delinsTCTTAC , CM000664.1:g.215812140_215812145delinsTCTTAC GRCh37
NC_000002.10:g.215520385_215520390delinsTCTTAC NCBI36
NG_007074.1:g.196007_196012delinsGTAAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7239+1_7239+6delinsGTAAGA (ABCA12) MANE Select ENSP00000272895.7:n.7239+1_7239+6delinsGT...
ENST00000272895.11:c.7239+1_7239+6delinsGTAAGA (ABCA12) ENSP00000272895.7:n.7239+1_7239+6delinsGT...
ENST00000389661.4:c.6285+1_6285+6delinsGTAAGA (ABCA12) ENSP00000374312.4:n.6285+1_6285+6delinsGT...
NM_015657.3:c.6285+1_6285+6delinsGTAAGA (ABCA12) NP_056472.2:n.6285+1_6285+6delinsGTAAGA
NM_173076.2:c.7239+1_7239+6delinsGTAAGA (ABCA12) NP_775099.2:n.7239+1_7239+6delinsGTAAGA
NR_103740.1:n.7539+1_7539+6delinsGTAAGA (ABCA12)
NR_110292.1:n.322-409_322-404delinsTCTTAC (SNHG31)
XM_011510951.1:c.7248+1_7248+6delinsGTAAGA (ABCA12) XP_011509253.1:n.7248+1_7248+6delinsGTAAG...
XM_011510951.2:c.7248+1_7248+6delinsGTAAGA (ABCA12) XP_011509253.1:n.7248+1_7248+6delinsGTAAG...
NM_173076.3:c.7239+1_7239+6delinsGTAAGA (ABCA12) MANE Select NP_775099.2:n.7239+1_7239+6delinsGTAAGA
NR_103740.2:n.7737+1_7737+6delinsGTAAGA (ABCA12)
NM_015657.4:c.6285+1_6285+6delinsGTAAGA (ABCA12) NP_056472.2:n.6285+1_6285+6delinsGTAAGA