Canonical Allele Identifier: CA2336431281

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363898_41363907delinsGTTATGAGTT , CM000681.2:g.41363898_41363907delinsGTTATGAGTT GRCh38
NC_000019.9:g.41869803_41869812delinsGTTATGAGTT , CM000681.1:g.41869803_41869812delinsGTTATGAGTT GRCh37
NC_000019.8:g.46561643_46561652delinsGTTATGAGTT NCBI36
NG_013091.1:g.5267_5276delinsAACTCATAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-5+51_-5+60delinsAACTCATAAC (B9D2) MANE Select ENSP00000243578.2:n.-5+51_-5+60delinsAACTCATAAC
ENST00000675972.1:c.-148_-139delinsAACTCATAAC (B9D2) ENSP00000501911.1:n.-148_-139delinsAACTCATAAC
ENST00000243578.7:c.-5+51_-5+60delinsAACTCATAAC (B9D2) ENSP00000243578.2:n.-5+51_-5+60delinsAACTCATAAC
ENST00000539627.5:c.-30+12696_-30+12705delinsGTTATGAGTT (TMEM91) ENSP00000441900.1:n.-30+12696_-30+12705delinsGTTATGAGTT
ENST00000594416.1:c.-5+51_-5+60delinsAACTCATAAC (B9D2) ENSP00000469666.1:n.-5+51_-5+60delinsAACTCATAAC
ENST00000601597.1:n.135+51_135+60delinsAACTCATAAC (B9D2)
ENST00000604123.5:c.142+9583_142+9592delinsGTTATGAGTT (TMEM91) ENSP00000474871.1:n.142+9583_142+9592delinsGTTATGAGTT
ENST00000604424.1:n.350+12696_350+12705delinsGTTATGAGTT
NM_030578.3:c.-5+51_-5+60delinsAACTCATAAC (B9D2) NP_085055.2:n.-5+51_-5+60delinsAACTCATAAC
XM_006723405.1:c.-5+51_-5+60delinsAACTCATAAC (B9D2) XP_006723468.1:n.-5+51_-5+60delinsAACTCATAAC
XM_011527350.1:c.-72+51_-72+60delinsAACTCATAAC (B9D2) XP_011525652.1:n.-72+51_-72+60delinsAACTCATAAC
XM_011527349.2:c.-148_-139delinsAACTCATAAC (B9D2) XP_011525651.1:n.-148_-139delinsAACTCATAAC
XM_011527350.2:c.-72+51_-72+60delinsAACTCATAAC (B9D2) XP_011525652.1:n.-72+51_-72+60delinsAACTCATAAC
NM_030578.4:c.-5+51_-5+60delinsAACTCATAAC (B9D2) MANE Select NP_085055.2:n.-5+51_-5+60delinsAACTCATAAC