Canonical Allele Identifier: CA2585300018

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363548_41363549insGGGTTGTGATT , CM000681.2:g.41363548_41363549insGGGTTGTGATT GRCh38
NC_000019.9:g.41869453_41869454insGGGTTGTGATT , CM000681.1:g.41869453_41869454insGGGTTGTGATT GRCh37
NC_000019.8:g.46561293_46561294insGGGTTGTGATT NCBI36
NG_013091.1:g.5625_5626insAATCACAACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-4-26_-4-25insAATCACAACCC (B9D2) MANE Select ENSP00000243578.2:n.-4-26_-4-25insAATCACAACCC
ENST00000675972.1:c.-4-26_-4-25insAATCACAACCC (B9D2) ENSP00000501911.1:n.-4-26_-4-25insAATCACAACCC
ENST00000243578.7:c.-4-26_-4-25insAATCACAACCC (B9D2) ENSP00000243578.2:n.-4-26_-4-25insAATCACAACCC
ENST00000539627.5:c.-30+12346_-30+12347insGGGTTGTGATT (TMEM91) ENSP00000441900.1:n.-30+12346_-30+12347insGGGTTGTGATT
ENST00000594416.1:c.-4-26_-4-25insAATCACAACCC (B9D2) ENSP00000469666.1:n.-4-26_-4-25insAATCACAACCC
ENST00000601597.1:n.136-26_136-25insAATCACAACCC (B9D2)
ENST00000604123.5:c.142+9233_142+9234insGGGTTGTGATT (TMEM91) ENSP00000474871.1:n.142+9233_142+9234insGGGTTGTGATT
ENST00000604424.1:n.350+12346_350+12347insGGGTTGTGATT
NM_030578.3:c.-4-26_-4-25insAATCACAACCC (B9D2) NP_085055.2:n.-4-26_-4-25insAATCACAACCC
XM_006723405.1:c.-4-26_-4-25insAATCACAACCC (B9D2) XP_006723468.1:n.-4-26_-4-25insAATCACAACCC
XM_011527349.1:c.-4-26_-4-25insAATCACAACCC (B9D2) XP_011525651.1:n.-4-26_-4-25insAATCACAACCC
XM_011527350.1:c.-72+409_-72+410insAATCACAACCC (B9D2) XP_011525652.1:n.-72+409_-72+410insAATCACAACCC
XM_011527349.2:c.-4-26_-4-25insAATCACAACCC (B9D2) XP_011525651.1:n.-4-26_-4-25insAATCACAACCC
XM_011527350.2:c.-72+409_-72+410insAATCACAACCC (B9D2) XP_011525652.1:n.-72+409_-72+410insAATCACAACCC
NM_030578.4:c.-4-26_-4-25insAATCACAACCC (B9D2) MANE Select NP_085055.2:n.-4-26_-4-25insAATCACAACCC