Canonical Allele Identifier: CA2336431343

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363971_41363974delinsACGG , CM000681.2:g.41363971_41363974delinsACGG GRCh38
NC_000019.9:g.41869876_41869879delinsACGG , CM000681.1:g.41869876_41869879delinsACGG GRCh37
NC_000019.8:g.46561716_46561719delinsACGG NCBI36
NG_013091.1:g.5200_5203delinsCCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-21_-18delinsCCGT (B9D2) MANE Select ENSP00000243578.2:n.-21_-18delinsCCGT
ENST00000243578.7:c.-21_-18delinsCCGT (B9D2) ENSP00000243578.2:n.-21_-18delinsCCGT
ENST00000539627.5:c.-30+12769_-30+12772delinsACGG (TMEM91) ENSP00000441900.1:n.-30+12769_-30+12772delinsACGG
ENST00000594416.1:c.-21_-18delinsCCGT (B9D2) ENSP00000469666.1:n.-21_-18delinsCCGT
ENST00000601597.1:n.119_122delinsCCGT (B9D2)
ENST00000604123.5:c.142+9656_142+9659delinsACGG (TMEM91) ENSP00000474871.1:n.142+9656_142+9659delinsACGG
ENST00000604424.1:n.350+12769_350+12772delinsACGG
NM_001098825.1:c.-154_-151delinsACGG (TMEM91) NP_001092295.1:n.-154_-151delinsACGG
NM_030578.3:c.-21_-18delinsCCGT (B9D2) NP_085055.2:n.-21_-18delinsCCGT
XM_006723405.1:c.-21_-18delinsCCGT (B9D2) XP_006723468.1:n.-21_-18delinsCCGT
XM_011527350.1:c.-88_-85delinsCCGT (B9D2) XP_011525652.1:n.-88_-85delinsCCGT
XM_011527350.2:c.-88_-85delinsCCGT (B9D2) XP_011525652.1:n.-88_-85delinsCCGT
NM_030578.4:c.-21_-18delinsCCGT (B9D2) MANE Select NP_085055.2:n.-21_-18delinsCCGT
NM_001369864.1:c.-411_-408delinsACGG (TMEM91) NP_001356793.1:n.-411_-408delinsACGG
NM_001098825.2:c.-154_-151delinsACGG (TMEM91) NP_001092295.1:n.-154_-151delinsACGG