Canonical Allele Identifier: CA2336431236

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363840_41363841delinsTC , CM000681.2:g.41363840_41363841delinsTC GRCh38
NC_000019.9:g.41869745_41869746delinsTC , CM000681.1:g.41869745_41869746delinsTC GRCh37
NC_000019.8:g.46561585_46561586delinsTC NCBI36
NG_013091.1:g.5333_5334delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-5+117_-5+118delinsGA (B9D2) MANE Select ENSP00000243578.2:n.-5+117_-5+118delinsGA
ENST00000675972.1:c.-82_-81delinsGA (B9D2) ENSP00000501911.1:n.-82_-81delinsGA
ENST00000243578.7:c.-5+117_-5+118delinsGA (B9D2) ENSP00000243578.2:n.-5+117_-5+118delinsGA
ENST00000539627.5:c.-30+12638_-30+12639delinsTC (TMEM91) ENSP00000441900.1:n.-30+12638_-30+12639delinsTC
ENST00000594416.1:c.-5+117_-5+118delinsGA (B9D2) ENSP00000469666.1:n.-5+117_-5+118delinsGA
ENST00000601597.1:n.135+117_135+118delinsGA (B9D2)
ENST00000604123.5:c.142+9525_142+9526delinsTC (TMEM91) ENSP00000474871.1:n.142+9525_142+9526delinsTC
ENST00000604424.1:n.350+12638_350+12639delinsTC
NM_030578.3:c.-5+117_-5+118delinsGA (B9D2) NP_085055.2:n.-5+117_-5+118delinsGA
XM_006723405.1:c.-5+117_-5+118delinsGA (B9D2) XP_006723468.1:n.-5+117_-5+118delinsGA
XM_011527349.1:c.-82_-81delinsGA (B9D2) XP_011525651.1:n.-82_-81delinsGA
XM_011527350.1:c.-72+117_-72+118delinsGA (B9D2) XP_011525652.1:n.-72+117_-72+118delinsGA
XM_011527349.2:c.-82_-81delinsGA (B9D2) XP_011525651.1:n.-82_-81delinsGA
XM_011527350.2:c.-72+117_-72+118delinsGA (B9D2) XP_011525652.1:n.-72+117_-72+118delinsGA
NM_030578.4:c.-5+117_-5+118delinsGA (B9D2) MANE Select NP_085055.2:n.-5+117_-5+118delinsGA