Canonical Allele Identifier: CA647523713
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932309_214932310insA , CM000664.2:g.214932309_214932310insA GRCh38
NC_000002.11:g.215797033_215797034insA , CM000664.1:g.215797033_215797034insA GRCh37
NC_000002.10:g.215505278_215505279insA NCBI36
NG_007074.1:g.211118_211119insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*324_*325insT (ABCA12) MANE Select ENSP00000272895.7:n.*324_*325insT
ENST00000272895.11:c.*324_*325insT (ABCA12) ENSP00000272895.7:n.*324_*325insT
NM_015657.3:c.*324_*325insT (ABCA12) NP_056472.2:n.*324_*325insT
NM_173076.2:c.*324_*325insT (ABCA12) NP_775099.2:n.*324_*325insT
NR_103740.1:n.8412_8413insT (ABCA12)
NR_110292.1:n.322-15516_322-15515insA (SNHG31)
XM_011510951.1:c.*324_*325insT (ABCA12) XP_011509253.1:n.*324_*325insT
XM_011510951.2:c.*324_*325insT (ABCA12) XP_011509253.1:n.*324_*325insT
NM_173076.3:c.*324_*325insT (ABCA12) MANE Select NP_775099.2:n.*324_*325insT
NR_103740.2:n.8610_8611insT (ABCA12)
NM_015657.4:c.*324_*325insT (ABCA12) NP_056472.2:n.*324_*325insT