Canonical Allele Identifier: CA1139664025

Gene: CA12

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63338829_63338830insAGGT , CM000677.2:g.63338829_63338830insAGGT	GRCh38
NC_000015.9:g.63631028_63631029insAGGT , CM000677.1:g.63631028_63631029insAGGT	GRCh37
NC_000015.8:g.61418081_61418082insAGGT	NCBI36
NG_028022.1:g.48047_48048insACCT
NG_028022.2:g.48337_48338insACCT

Transcript Alleles

HGVS	Amino-acid Change
NM_001218.5:c.863_864insACCT MANE Select	NP_001209.1:p.Phe289ProfsTer?
ENST00000178638.8:c.863_864insACCT MANE Select	ENSP00000178638.3:p.Phe289ProfsTer?
NM_001218.4:c.863_864insACCT	NP_001209.1:p.Phe289ProfsTer?
NM_001293642.1:c.683_684insACCT	NP_001280571.1:p.Phe229ProfsTer?
NM_001293642.2:c.683_684insACCT	NP_001280571.1:p.Phe229ProfsTer?
NM_206925.2:c.863_864insACCT	NP_996808.1:p.Phe289ProfsTer?
NM_206925.3:c.863_864insACCT	NP_996808.1:p.Phe289ProfsTer?
NR_135511.1:n.1356_1357insACCT
NR_135511.2:n.1036_1037insACCT
ENST00000178638.7:c.863_864insACCT	ENSP00000178638.3:p.Phe289ProfsTer?
ENST00000344366.7:c.863_864insACCT	ENSP00000343088.3:p.Phe289ProfsTer?
ENST00000422263.2:c.683_684insACCT	ENSP00000403028.2:p.Phe229ProfsTer?
XR_932358.1:n.768-2985_768-2984insAGGT