Canonical Allele Identifier: CA995965441

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355489_41355492del , CM000681.2:g.41355489_41355492del GRCh38
NC_000019.9:g.41861394_41861397del , CM000681.1:g.41861394_41861397del GRCh37
NC_000019.8:g.46553234_46553237del NCBI36
NG_013091.1:g.13682_13685del
NG_013364.1:g.3435_3438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.215-479_215-476del (B9D2) MANE Select ENSP00000243578.2:n.215-479_215-476del
ENST00000675972.1:c.215-479_215-476del (B9D2) ENSP00000501911.1:n.215-479_215-476del
ENST00000243578.7:c.215-479_215-476del (B9D2) ENSP00000243578.2:n.215-479_215-476del
ENST00000539627.5:c.-30+4287_-30+4290del (TMEM91) ENSP00000441900.1:n.-30+4287_-30+4290del
ENST00000594416.1:c.*61-479_*61-476del (B9D2) ENSP00000469666.1:n.*61-479_*61-476del
ENST00000604123.5:c.142+1174_142+1177del (TMEM91) ENSP00000474871.1:n.142+1174_142+1177del
ENST00000604424.1:n.350+4287_350+4290del
NM_030578.3:c.215-479_215-476del (B9D2) NP_085055.2:n.215-479_215-476del
XM_006723405.1:c.89-479_89-476del (B9D2) XP_006723468.1:n.89-479_89-476del
XM_011527349.1:c.215-479_215-476del (B9D2) XP_011525651.1:n.215-479_215-476del
XM_011527350.1:c.56-479_56-476del (B9D2) XP_011525652.1:n.56-479_56-476del
XM_011527349.2:c.215-479_215-476del (B9D2) XP_011525651.1:n.215-479_215-476del
XM_011527350.2:c.56-479_56-476del (B9D2) XP_011525652.1:n.56-479_56-476del
NM_030578.4:c.215-479_215-476del (B9D2) MANE Select NP_085055.2:n.215-479_215-476del