Canonical Allele Identifier: CA10575832
Community Standard Title: NM_001218.5(CA12):c.859_860insACCT (p.Thr287AsnfsTer?)
Gene: CA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.63338833_63338834insAGGT , CM000677.2:g.63338833_63338834insAGGT GRCh38
NC_000015.9:g.63631032_63631033insAGGT , CM000677.1:g.63631032_63631033insAGGT GRCh37
NC_000015.8:g.61418085_61418086insAGGT NCBI36
NG_028022.1:g.48043_48044insACCT
NG_028022.2:g.48333_48334insACCT

Transcript Alleles

HGVS Amino-acid Change
NM_001218.5:c.859_860insACCT MANE Select NP_001209.1:p.Thr287AsnfsTer?
ENST00000178638.8:c.859_860insACCT MANE Select ENSP00000178638.3:p.Thr287AsnfsTer?
NM_001218.4:c.859_860insACCT NP_001209.1:p.Thr287AsnfsTer?
NM_001293642.1:c.679_680insACCT NP_001280571.1:p.Thr227AsnfsTer?
NM_001293642.2:c.679_680insACCT NP_001280571.1:p.Thr227AsnfsTer?
NM_206925.2:c.859_860insACCT NP_996808.1:p.Thr287AsnfsTer?
NM_206925.3:c.859_860insACCT NP_996808.1:p.Thr287AsnfsTer?
NR_135511.1:n.1352_1353insACCT
NR_135511.2:n.1032_1033insACCT
ENST00000178638.7:c.859_860insACCT ENSP00000178638.3:p.Thr287AsnfsTer?
ENST00000344366.7:c.859_860insACCT ENSP00000343088.3:p.Thr287AsnfsTer?
ENST00000422263.2:c.679_680insACCT ENSP00000403028.2:p.Thr227AsnfsTer?
XR_932358.1:n.768-2981_768-2980insAGGT