Canonical Allele Identifier: CA882330677

Linked Data

dbSNP Id: rs1397970528

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355420_41355421dup , CM000681.2:g.41355420_41355421dup GRCh38
NC_000019.9:g.41861325_41861326dup , CM000681.1:g.41861325_41861326dup GRCh37
NC_000019.8:g.46553165_46553166dup NCBI36
NG_013091.1:g.13755_13756dup
NG_013364.1:g.3508_3509dup

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-406_215-405dup (B9D2) MANE Select ENSP00000243578.2:n.215-406_215-405dup
ENST00000675972.1:c.215-406_215-405dup (B9D2) ENSP00000501911.1:n.215-406_215-405dup
ENST00000243578.7:c.215-406_215-405dup (B9D2) ENSP00000243578.2:n.215-406_215-405dup
ENST00000539627.5:c.-30+4218_-30+4219dup (TMEM91) ENSP00000441900.1:n.-30+4218_-30+4219dup
ENST00000594416.1:c.*61-406_*61-405dup (B9D2) ENSP00000469666.1:n.*61-406_*61-405dup
ENST00000604123.5:c.142+1105_142+1106dup (TMEM91) ENSP00000474871.1:n.142+1105_142+1106dup
ENST00000604424.1:n.350+4218_350+4219dup
NM_030578.3:c.215-406_215-405dup (B9D2) NP_085055.2:n.215-406_215-405dup
XM_006723405.1:c.89-406_89-405dup (B9D2) XP_006723468.1:n.89-406_89-405dup
XM_011527349.1:c.215-406_215-405dup (B9D2) XP_011525651.1:n.215-406_215-405dup
XM_011527350.1:c.56-406_56-405dup (B9D2) XP_011525652.1:n.56-406_56-405dup
XM_011527349.2:c.215-406_215-405dup (B9D2) XP_011525651.1:n.215-406_215-405dup
XM_011527350.2:c.56-406_56-405dup (B9D2) XP_011525652.1:n.56-406_56-405dup
NM_030578.4:c.215-406_215-405dup (B9D2) MANE Select NP_085055.2:n.215-406_215-405dup