Canonical Allele Identifier: CA2662980269
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-215011395-T-TGTC
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011396_215011398dup , CM000664.2:g.215011396_215011398dup GRCh38
NC_000002.11:g.215876120_215876122dup , CM000664.1:g.215876120_215876122dup GRCh37
NC_000002.10:g.215584365_215584367dup NCBI36
NG_007074.1:g.132030_132032dup

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+41_2332+43dup MANE Select ENSP00000272895.7:n.2332+41_2332+43dup
ENST00000272895.11:c.2332+41_2332+43dup ENSP00000272895.7:n.2332+41_2332+43dup
ENST00000389661.4:c.1378+41_1378+43dup ENSP00000374312.4:n.1378+41_1378+43dup
NM_015657.3:c.1378+41_1378+43dup NP_056472.2:n.1378+41_1378+43dup
NM_173076.2:c.2332+41_2332+43dup NP_775099.2:n.2332+41_2332+43dup
NR_103740.1:n.2576+41_2576+43dup
XM_011510951.1:c.2332+41_2332+43dup XP_011509253.1:n.2332+41_2332+43dup
XM_011510952.1:c.2332+41_2332+43dup XP_011509254.1:n.2332+41_2332+43dup
XM_011510951.2:c.2332+41_2332+43dup XP_011509253.1:n.2332+41_2332+43dup
NM_173076.3:c.2332+41_2332+43dup MANE Select NP_775099.2:n.2332+41_2332+43dup
NR_103740.2:n.2774+41_2774+43dup
NM_015657.4:c.1378+41_1378+43dup NP_056472.2:n.1378+41_1378+43dup
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