Canonical Allele Identifier: CA2662974827
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214944854-GTA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214944860_214944861del , CM000664.2:g.214944860_214944861del GRCh38
NC_000002.11:g.215809584_215809585del , CM000664.1:g.215809584_215809585del GRCh37
NC_000002.10:g.215517829_215517830del NCBI36
NG_007074.1:g.198572_198573del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.7343+145_7343+146del (ABCA12) MANE Select ENSP00000272895.7:n.7343+145_7343+146del
ENST00000272895.11:c.7343+145_7343+146del (ABCA12) ENSP00000272895.7:n.7343+145_7343+146del
ENST00000389661.4:c.6389+145_6389+146del (ABCA12) ENSP00000374312.4:n.6389+145_6389+146del
NM_015657.3:c.6389+145_6389+146del (ABCA12) NP_056472.2:n.6389+145_6389+146del
NM_173076.2:c.7343+145_7343+146del (ABCA12) NP_775099.2:n.7343+145_7343+146del
NR_103740.1:n.7643+145_7643+146del (ABCA12)
NR_110292.1:n.322-2965_322-2964del (SNHG31)
XM_011510951.1:c.7352+145_7352+146del (ABCA12) XP_011509253.1:n.7352+145_7352+146del
XM_011510951.2:c.7352+145_7352+146del (ABCA12) XP_011509253.1:n.7352+145_7352+146del
NM_173076.3:c.7343+145_7343+146del (ABCA12) MANE Select NP_775099.2:n.7343+145_7343+146del
NR_103740.2:n.7841+145_7841+146del (ABCA12)
NM_015657.4:c.6389+145_6389+146del (ABCA12) NP_056472.2:n.6389+145_6389+146del
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