Canonical Allele Identifier: CA2814433790

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363985del , CM000681.2:g.41363985del GRCh38
NC_000019.9:g.41869890del , CM000681.1:g.41869890del GRCh37
NC_000019.8:g.46561730del NCBI36
NG_013091.1:g.5189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-32del (B9D2) MANE Select ENSP00000243578.2:n.-32del
ENST00000243578.7:c.-32del (B9D2) ENSP00000243578.2:n.-32del
ENST00000539627.5:c.-30+12783del (TMEM91) ENSP00000441900.1:n.-30+12783del
ENST00000594416.1:c.-32del (B9D2) ENSP00000469666.1:n.-32del
ENST00000601597.1:n.108del (B9D2)
ENST00000604123.5:c.142+9670del (TMEM91) ENSP00000474871.1:n.142+9670del
ENST00000604424.1:n.350+12783del
NM_001098825.1:c.-140del (TMEM91) NP_001092295.1:n.-140del
NM_030578.3:c.-32del (B9D2) NP_085055.2:n.-32del
XM_006723405.1:c.-32del (B9D2) XP_006723468.1:n.-32del
XM_011527350.1:c.-99del (B9D2) XP_011525652.1:n.-99del
XM_011527350.2:c.-99del (B9D2) XP_011525652.1:n.-99del
NM_030578.4:c.-32del (B9D2) MANE Select NP_085055.2:n.-32del
NM_001369864.1:c.-397del (TMEM91) NP_001356793.1:n.-397del
NM_001098825.2:c.-140del (TMEM91) NP_001092295.1:n.-140del