Canonical Allele Identifier: CA2585300355

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364002del , CM000681.2:g.41364002del GRCh38
NC_000019.9:g.41869907del , CM000681.1:g.41869907del GRCh37
NC_000019.8:g.46561747del NCBI36
NG_013091.1:g.5175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-46del (B9D2) MANE Select ENSP00000243578.2:n.-46del
ENST00000243578.7:c.-46del (B9D2) ENSP00000243578.2:n.-46del
ENST00000539627.5:c.-30+12800del (TMEM91) ENSP00000441900.1:n.-30+12800del
ENST00000594416.1:c.-46del (B9D2) ENSP00000469666.1:n.-46del
ENST00000601597.1:n.94del (B9D2)
ENST00000604123.5:c.142+9687del (TMEM91) ENSP00000474871.1:n.142+9687del
ENST00000604424.1:n.350+12800del
NM_001098825.1:c.-123del (TMEM91) NP_001092295.1:n.-123del
NM_030578.3:c.-46del (B9D2) NP_085055.2:n.-46del
XM_006723405.1:c.-46del (B9D2) XP_006723468.1:n.-46del
XM_011527350.1:c.-113del (B9D2) XP_011525652.1:n.-113del
XM_011527350.2:c.-113del (B9D2) XP_011525652.1:n.-113del
NM_030578.4:c.-46del (B9D2) MANE Select NP_085055.2:n.-46del
NM_001369864.1:c.-380del (TMEM91) NP_001356793.1:n.-380del
NM_001098825.2:c.-123del (TMEM91) NP_001092295.1:n.-123del