Canonical Allele Identifier: CA2336427129

Gene: B9D2 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354615_41354622delinsGTCTGTGC , CM000681.2:g.41354615_41354622delinsGTCTGTGC	GRCh38
NC_000019.9:g.41860520_41860527delinsGTCTGTGC , CM000681.1:g.41860520_41860527delinsGTCTGTGC	GRCh37
NC_000019.8:g.46552360_46552367delinsGTCTGTGC	NCBI36
NG_013091.1:g.14552_14559delinsGCACAGAC
NG_013364.1:g.4305_4312delinsGCACAGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.*78_*85delinsGCACAGAC (B9D2) MANE Select	ENSP00000243578.2:n.*78_*85delinsGCACAGAC
ENST00000675972.1:c.*78_*85delinsGCACAGAC (B9D2)	ENSP00000501911.1:n.*78_*85delinsGCACAGAC
ENST00000243578.7:c.*78_*85delinsGCACAGAC (B9D2)	ENSP00000243578.2:n.*78_*85delinsGCACAGAC
ENST00000539627.5:c.-30+3413_-30+3420delinsGTCTGTGC (TMEM91)	ENSP00000441900.1:n.-30+3413_-30+3420delinsGTCTGTGC
ENST00000604123.5:c.142+300_142+307delinsGTCTGTGC (TMEM91)	ENSP00000474871.1:n.142+300_142+307delinsGTCTGTGC
ENST00000604424.1:n.350+3413_350+3420delinsGTCTGTGC
NM_030578.3:c.*78_*85delinsGCACAGAC (B9D2)	NP_085055.2:n.*78_*85delinsGCACAGAC
XM_006723405.1:c.*78_*85delinsGCACAGAC (B9D2)	XP_006723468.1:n.*78_*85delinsGCACAGAC
XM_011527349.1:c.*78_*85delinsGCACAGAC (B9D2)	XP_011525651.1:n.*78_*85delinsGCACAGAC
XM_011527350.1:c.*78_*85delinsGCACAGAC (B9D2)	XP_011525652.1:n.*78_*85delinsGCACAGAC
XM_011527349.2:c.*78_*85delinsGCACAGAC (B9D2)	XP_011525651.1:n.*78_*85delinsGCACAGAC
XM_011527350.2:c.*78_*85delinsGCACAGAC (B9D2)	XP_011525652.1:n.*78_*85delinsGCACAGAC
NM_030578.4:c.*78_*85delinsGCACAGAC (B9D2) MANE Select	NP_085055.2:n.*78_*85delinsGCACAGAC