Canonical Allele Identifier: CA2577234486
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932598del , CM000664.2:g.214932598del GRCh38
NC_000002.11:g.215797322del , CM000664.1:g.215797322del GRCh37
NC_000002.10:g.215505567del NCBI36
NG_007074.1:g.210830del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.*36del (ABCA12) MANE Select ENSP00000272895.7:n.*36del
ENST00000272895.11:c.*36del (ABCA12) ENSP00000272895.7:n.*36del
NM_015657.3:c.*36del (ABCA12) NP_056472.2:n.*36del
NM_173076.2:c.*36del (ABCA12) NP_775099.2:n.*36del
NR_103740.1:n.8124del (ABCA12)
NR_110292.1:n.322-15227del (SNHG31)
XM_011510951.1:c.*36del (ABCA12) XP_011509253.1:n.*36del
XM_011510951.2:c.*36del (ABCA12) XP_011509253.1:n.*36del
NM_173076.3:c.*36del (ABCA12) MANE Select NP_775099.2:n.*36del
NR_103740.2:n.8322del (ABCA12)
NM_015657.4:c.*36del (ABCA12) NP_056472.2:n.*36del
Search 100 bp 5'
Search 100 bp 3'