Canonical Allele Identifier: CA2662974837
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214944863-TTGTATGTGTGTATATATATATATACACACACATATATA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944873_214944910del , CM000664.2:g.214944873_214944910del GRCh38
NC_000002.11:g.215809597_215809634del , CM000664.1:g.215809597_215809634del GRCh37
NC_000002.10:g.215517842_215517879del NCBI36
NG_007074.1:g.198527_198564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.7343+100_7343+137del (ABCA12) MANE Select ENSP00000272895.7:n.7343+100_7343+137del
ENST00000272895.11:c.7343+100_7343+137del (ABCA12) ENSP00000272895.7:n.7343+100_7343+137del
ENST00000389661.4:c.6389+100_6389+137del (ABCA12) ENSP00000374312.4:n.6389+100_6389+137del
NM_015657.3:c.6389+100_6389+137del (ABCA12) NP_056472.2:n.6389+100_6389+137del
NM_173076.2:c.7343+100_7343+137del (ABCA12) NP_775099.2:n.7343+100_7343+137del
NR_103740.1:n.7643+100_7643+137del (ABCA12)
NR_110292.1:n.322-2952_322-2915del (SNHG31)
XM_011510951.1:c.7352+100_7352+137del (ABCA12) XP_011509253.1:n.7352+100_7352+137del
XM_011510951.2:c.7352+100_7352+137del (ABCA12) XP_011509253.1:n.7352+100_7352+137del
NM_173076.3:c.7343+100_7343+137del (ABCA12) MANE Select NP_775099.2:n.7343+100_7343+137del
NR_103740.2:n.7841+100_7841+137del (ABCA12)
NM_015657.4:c.6389+100_6389+137del (ABCA12) NP_056472.2:n.6389+100_6389+137del
Search 100 bp 5'
Search 100 bp 3'