Canonical Allele Identifier: CA2336427494

Linked Data

dbSNP Id: rs2038296027

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355331_41355334del , CM000681.2:g.41355331_41355334del GRCh38
NC_000019.9:g.41861236_41861239del , CM000681.1:g.41861236_41861239del GRCh37
NC_000019.8:g.46553076_46553079del NCBI36
NG_013091.1:g.13842_13845del
NG_013364.1:g.3595_3598del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.215-319_215-316del (B9D2) MANE Select ENSP00000243578.2:n.215-319_215-316del
ENST00000675972.1:c.215-319_215-316del (B9D2) ENSP00000501911.1:n.215-319_215-316del
ENST00000243578.7:c.215-319_215-316del (B9D2) ENSP00000243578.2:n.215-319_215-316del
ENST00000539627.5:c.-30+4129_-30+4132del (TMEM91) ENSP00000441900.1:n.-30+4129_-30+4132del
ENST00000594416.1:c.*61-319_*61-316del (B9D2) ENSP00000469666.1:n.*61-319_*61-316del
ENST00000604123.5:c.142+1016_142+1019del (TMEM91) ENSP00000474871.1:n.142+1016_142+1019del
ENST00000604424.1:n.350+4129_350+4132del
NM_030578.3:c.215-319_215-316del (B9D2) NP_085055.2:n.215-319_215-316del
XM_006723405.1:c.89-319_89-316del (B9D2) XP_006723468.1:n.89-319_89-316del
XM_011527349.1:c.215-319_215-316del (B9D2) XP_011525651.1:n.215-319_215-316del
XM_011527350.1:c.56-319_56-316del (B9D2) XP_011525652.1:n.56-319_56-316del
XM_011527349.2:c.215-319_215-316del (B9D2) XP_011525651.1:n.215-319_215-316del
XM_011527350.2:c.56-319_56-316del (B9D2) XP_011525652.1:n.56-319_56-316del
NM_030578.4:c.215-319_215-316del (B9D2) MANE Select NP_085055.2:n.215-319_215-316del