Canonical Allele Identifier: CA2336427479

Gene: B9D2 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355283_41355286delinsCTCT , CM000681.2:g.41355283_41355286delinsCTCT	GRCh38
NC_000019.9:g.41861188_41861191delinsCTCT , CM000681.1:g.41861188_41861191delinsCTCT	GRCh37
NC_000019.8:g.46553028_46553031delinsCTCT	NCBI36
NG_013091.1:g.13888_13891delinsAGAG
NG_013364.1:g.3641_3644delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.215-273_215-270delinsAGAG (B9D2) MANE Select	ENSP00000243578.2:n.215-273_215-270delinsAGAG
ENST00000675972.1:c.215-273_215-270delinsAGAG (B9D2)	ENSP00000501911.1:n.215-273_215-270delinsAGAG
ENST00000243578.7:c.215-273_215-270delinsAGAG (B9D2)	ENSP00000243578.2:n.215-273_215-270delinsAGAG
ENST00000539627.5:c.-30+4081_-30+4084delinsCTCT (TMEM91)	ENSP00000441900.1:n.-30+4081_-30+4084delinsCTCT
ENST00000594416.1:c.*61-273_*61-270delinsAGAG (B9D2)	ENSP00000469666.1:n.*61-273_*61-270delinsAGAG
ENST00000604123.5:c.142+968_142+971delinsCTCT (TMEM91)	ENSP00000474871.1:n.142+968_142+971delinsCTCT
ENST00000604424.1:n.350+4081_350+4084delinsCTCT
NM_030578.3:c.215-273_215-270delinsAGAG (B9D2)	NP_085055.2:n.215-273_215-270delinsAGAG
XM_006723405.1:c.89-273_89-270delinsAGAG (B9D2)	XP_006723468.1:n.89-273_89-270delinsAGAG
XM_011527349.1:c.215-273_215-270delinsAGAG (B9D2)	XP_011525651.1:n.215-273_215-270delinsAGAG
XM_011527350.1:c.56-273_56-270delinsAGAG (B9D2)	XP_011525652.1:n.56-273_56-270delinsAGAG
XM_011527349.2:c.215-273_215-270delinsAGAG (B9D2)	XP_011525651.1:n.215-273_215-270delinsAGAG
XM_011527350.2:c.56-273_56-270delinsAGAG (B9D2)	XP_011525652.1:n.56-273_56-270delinsAGAG
NM_030578.4:c.215-273_215-270delinsAGAG (B9D2) MANE Select	NP_085055.2:n.215-273_215-270delinsAGAG