Canonical Allele Identifier: CA995965387

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355431_41355432del , CM000681.2:g.41355431_41355432del GRCh38
NC_000019.9:g.41861336_41861337del , CM000681.1:g.41861336_41861337del GRCh37
NC_000019.8:g.46553176_46553177del NCBI36
NG_013091.1:g.13742_13743del
NG_013364.1:g.3495_3496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.215-419_215-418del (B9D2) MANE Select ENSP00000243578.2:n.215-419_215-418del
ENST00000675972.1:c.215-419_215-418del (B9D2) ENSP00000501911.1:n.215-419_215-418del
ENST00000243578.7:c.215-419_215-418del (B9D2) ENSP00000243578.2:n.215-419_215-418del
ENST00000539627.5:c.-30+4229_-30+4230del (TMEM91) ENSP00000441900.1:n.-30+4229_-30+4230del
ENST00000594416.1:c.*61-419_*61-418del (B9D2) ENSP00000469666.1:n.*61-419_*61-418del
ENST00000604123.5:c.142+1116_142+1117del (TMEM91) ENSP00000474871.1:n.142+1116_142+1117del
ENST00000604424.1:n.350+4229_350+4230del
NM_030578.3:c.215-419_215-418del (B9D2) NP_085055.2:n.215-419_215-418del
XM_006723405.1:c.89-419_89-418del (B9D2) XP_006723468.1:n.89-419_89-418del
XM_011527349.1:c.215-419_215-418del (B9D2) XP_011525651.1:n.215-419_215-418del
XM_011527350.1:c.56-419_56-418del (B9D2) XP_011525652.1:n.56-419_56-418del
XM_011527349.2:c.215-419_215-418del (B9D2) XP_011525651.1:n.215-419_215-418del
XM_011527350.2:c.56-419_56-418del (B9D2) XP_011525652.1:n.56-419_56-418del
NM_030578.4:c.215-419_215-418del (B9D2) MANE Select NP_085055.2:n.215-419_215-418del