Canonical Allele Identifier: CA2585300004

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363424_41363427dup , CM000681.2:g.41363424_41363427dup GRCh38
NC_000019.9:g.41869329_41869332dup , CM000681.1:g.41869329_41869332dup GRCh37
NC_000019.8:g.46561169_46561172dup NCBI36
NG_013091.1:g.5747_5750dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.88+5_88+8dup (B9D2) MANE Select ENSP00000243578.2:n.88+5_88+8dup
ENST00000675972.1:c.88+5_88+8dup (B9D2) ENSP00000501911.1:n.88+5_88+8dup
ENST00000243578.7:c.88+5_88+8dup (B9D2) ENSP00000243578.2:n.88+5_88+8dup
ENST00000539627.5:c.-30+12222_-30+12225dup (TMEM91) ENSP00000441900.1:n.-30+12222_-30+12225dup
ENST00000594416.1:c.88+5_88+8dup (B9D2) ENSP00000469666.1:n.88+5_88+8dup
ENST00000601597.1:n.227+5_227+8dup (B9D2)
ENST00000604123.5:c.142+9109_142+9112dup (TMEM91) ENSP00000474871.1:n.142+9109_142+9112dup
ENST00000604424.1:n.350+12222_350+12225dup
NM_030578.3:c.88+5_88+8dup (B9D2) NP_085055.2:n.88+5_88+8dup
XM_006723405.1:c.88+5_88+8dup (B9D2) XP_006723468.1:n.88+5_88+8dup
XM_011527349.1:c.88+5_88+8dup (B9D2) XP_011525651.1:n.88+5_88+8dup
XM_011527350.1:c.-72+531_-72+534dup (B9D2) XP_011525652.1:n.-72+531_-72+534dup
XM_011527349.2:c.88+5_88+8dup (B9D2) XP_011525651.1:n.88+5_88+8dup
XM_011527350.2:c.-72+531_-72+534dup (B9D2) XP_011525652.1:n.-72+531_-72+534dup
NM_030578.4:c.88+5_88+8dup (B9D2) MANE Select NP_085055.2:n.88+5_88+8dup