Canonical Allele Identifier: CA882336104

Linked Data

dbSNP Id: rs1168437330

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364028_41364030del , CM000681.2:g.41364028_41364030del GRCh38
NC_000019.9:g.41869933_41869935del , CM000681.1:g.41869933_41869935del GRCh37
NC_000019.8:g.46561773_46561775del NCBI36
NG_013091.1:g.5147_5149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-74_-72del (B9D2) MANE Select ENSP00000243578.2:n.-74_-72del
ENST00000243578.7:c.-74_-72del (B9D2) ENSP00000243578.2:n.-74_-72del
ENST00000539627.5:c.-30+12826_-30+12828del (TMEM91) ENSP00000441900.1:n.-30+12826_-30+12828del
ENST00000594416.1:c.-74_-72del (B9D2) ENSP00000469666.1:n.-74_-72del
ENST00000601597.1:n.66_68del (B9D2)
ENST00000604123.5:c.142+9713_142+9715del (TMEM91) ENSP00000474871.1:n.142+9713_142+9715del
ENST00000604424.1:n.350+12826_350+12828del
NM_001098825.1:c.-97_-95del (TMEM91) NP_001092295.1:n.-97_-95del
NM_030578.3:c.-74_-72del (B9D2) NP_085055.2:n.-74_-72del
XM_006723405.1:c.-74_-72del (B9D2) XP_006723468.1:n.-74_-72del
XM_011527350.1:c.-141_-139del (B9D2) XP_011525652.1:n.-141_-139del
XM_011527350.2:c.-141_-139del (B9D2) XP_011525652.1:n.-141_-139del
NM_030578.4:c.-74_-72del (B9D2) MANE Select NP_085055.2:n.-74_-72del
NM_001369864.1:c.-354_-352del (TMEM91) NP_001356793.1:n.-354_-352del
NM_001098825.2:c.-97_-95del (TMEM91) NP_001092295.1:n.-97_-95del