Canonical Allele Identifier: CA2336427346

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41355024_41355028delinsGGAGA , CM000681.2:g.41355024_41355028delinsGGAGA GRCh38
NC_000019.9:g.41860929_41860933delinsGGAGA , CM000681.1:g.41860929_41860933delinsGGAGA GRCh37
NC_000019.8:g.46552769_46552773delinsGGAGA NCBI36
NG_013091.1:g.14146_14150delinsTCTCC
NG_013364.1:g.3899_3903delinsTCTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000243578.8:c.215-15_215-11delinsTCTCC (B9D2) MANE Select ENSP00000243578.2:n.215-15_215-11delinsTC...
ENST00000675972.1:c.215-15_215-11delinsTCTCC (B9D2) ENSP00000501911.1:n.215-15_215-11delinsTC...
ENST00000243578.7:c.215-15_215-11delinsTCTCC (B9D2) ENSP00000243578.2:n.215-15_215-11delinsTC...
ENST00000539627.5:c.-30+3822_-30+3826delinsGGAGA (TMEM91) ENSP00000441900.1:n.-30+3822_-30+3826deli...
ENST00000594416.1:c.*61-15_*61-11delinsTCTCC (B9D2) ENSP00000469666.1:n.*61-15_*61-11delinsTC...
ENST00000604123.5:c.142+709_142+713delinsGGAGA (TMEM91) ENSP00000474871.1:n.142+709_142+713delins...
ENST00000604424.1:n.350+3822_350+3826delinsGGAGA
NM_030578.3:c.215-15_215-11delinsTCTCC (B9D2) NP_085055.2:n.215-15_215-11delinsTCTCC
XM_006723405.1:c.89-15_89-11delinsTCTCC (B9D2) XP_006723468.1:n.89-15_89-11delinsTCTCC
XM_011527349.1:c.215-15_215-11delinsTCTCC (B9D2) XP_011525651.1:n.215-15_215-11delinsTCTCC...
XM_011527350.1:c.56-15_56-11delinsTCTCC (B9D2) XP_011525652.1:n.56-15_56-11delinsTCTCC
XM_011527349.2:c.215-15_215-11delinsTCTCC (B9D2) XP_011525651.1:n.215-15_215-11delinsTCTCC...
XM_011527350.2:c.56-15_56-11delinsTCTCC (B9D2) XP_011525652.1:n.56-15_56-11delinsTCTCC
NM_030578.4:c.215-15_215-11delinsTCTCC (B9D2) MANE Select NP_085055.2:n.215-15_215-11delinsTCTCC