Canonical Allele Identifier: CA995965404

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355465_41355468del , CM000681.2:g.41355465_41355468del GRCh38
NC_000019.9:g.41861370_41861373del , CM000681.1:g.41861370_41861373del GRCh37
NC_000019.8:g.46553210_46553213del NCBI36
NG_013091.1:g.13706_13709del
NG_013364.1:g.3459_3462del

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-455_215-452del (B9D2) MANE Select ENSP00000243578.2:n.215-455_215-452del
ENST00000675972.1:c.215-455_215-452del (B9D2) ENSP00000501911.1:n.215-455_215-452del
ENST00000243578.7:c.215-455_215-452del (B9D2) ENSP00000243578.2:n.215-455_215-452del
ENST00000539627.5:c.-30+4263_-30+4266del (TMEM91) ENSP00000441900.1:n.-30+4263_-30+4266del
ENST00000594416.1:c.*61-455_*61-452del (B9D2) ENSP00000469666.1:n.*61-455_*61-452del
ENST00000604123.5:c.142+1150_142+1153del (TMEM91) ENSP00000474871.1:n.142+1150_142+1153del
ENST00000604424.1:n.350+4263_350+4266del
NM_030578.3:c.215-455_215-452del (B9D2) NP_085055.2:n.215-455_215-452del
XM_006723405.1:c.89-455_89-452del (B9D2) XP_006723468.1:n.89-455_89-452del
XM_011527349.1:c.215-455_215-452del (B9D2) XP_011525651.1:n.215-455_215-452del
XM_011527350.1:c.56-455_56-452del (B9D2) XP_011525652.1:n.56-455_56-452del
XM_011527349.2:c.215-455_215-452del (B9D2) XP_011525651.1:n.215-455_215-452del
XM_011527350.2:c.56-455_56-452del (B9D2) XP_011525652.1:n.56-455_56-452del
NM_030578.4:c.215-455_215-452del (B9D2) MANE Select NP_085055.2:n.215-455_215-452del