Canonical Allele Identifier: CA2336427510

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355388_41355396delinsCCCAGGTAA , CM000681.2:g.41355388_41355396delinsCCCAGGTAA GRCh38
NC_000019.9:g.41861293_41861301delinsCCCAGGTAA , CM000681.1:g.41861293_41861301delinsCCCAGGTAA GRCh37
NC_000019.8:g.46553133_46553141delinsCCCAGGTAA NCBI36
NG_013091.1:g.13778_13786delinsTTACCTGGG
NG_013364.1:g.3531_3539delinsTTACCTGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-383_215-375delinsTTACCTGGG (B9D2) MANE Select ENSP00000243578.2:n.215-383_215-375delins...
ENST00000675972.1:c.215-383_215-375delinsTTACCTGGG (B9D2) ENSP00000501911.1:n.215-383_215-375delins...
ENST00000243578.7:c.215-383_215-375delinsTTACCTGGG (B9D2) ENSP00000243578.2:n.215-383_215-375delins...
ENST00000539627.5:c.-30+4186_-30+4194delinsCCCAGGTAA (TMEM91) ENSP00000441900.1:n.-30+4186_-30+4194deli...
ENST00000594416.1:c.*61-383_*61-375delinsTTACCTGGG (B9D2) ENSP00000469666.1:n.*61-383_*61-375delins...
ENST00000604123.5:c.142+1073_142+1081delinsCCCAGGTAA (TMEM91) ENSP00000474871.1:n.142+1073_142+1081deli...
ENST00000604424.1:n.350+4186_350+4194delinsCCCAGGTAA
NM_030578.3:c.215-383_215-375delinsTTACCTGGG (B9D2) NP_085055.2:n.215-383_215-375delinsTTACCT...
XM_006723405.1:c.89-383_89-375delinsTTACCTGGG (B9D2) XP_006723468.1:n.89-383_89-375delinsTTACC...
XM_011527349.1:c.215-383_215-375delinsTTACCTGGG (B9D2) XP_011525651.1:n.215-383_215-375delinsTTA...
XM_011527350.1:c.56-383_56-375delinsTTACCTGGG (B9D2) XP_011525652.1:n.56-383_56-375delinsTTACC...
XM_011527349.2:c.215-383_215-375delinsTTACCTGGG (B9D2) XP_011525651.1:n.215-383_215-375delinsTTA...
XM_011527350.2:c.56-383_56-375delinsTTACCTGGG (B9D2) XP_011525652.1:n.56-383_56-375delinsTTACC...
NM_030578.4:c.215-383_215-375delinsTTACCTGGG (B9D2) MANE Select NP_085055.2:n.215-383_215-375delinsTTACCT...