Canonical Allele Identifier: CA2336427569

Gene: B9D2 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355532_41355543delinsTCCATAGCTTTG , CM000681.2:g.41355532_41355543delinsTCCATAGCTTTG	GRCh38
NC_000019.9:g.41861437_41861448delinsTCCATAGCTTTG , CM000681.1:g.41861437_41861448delinsTCCATAGCTTTG	GRCh37
NC_000019.8:g.46553277_46553288delinsTCCATAGCTTTG	NCBI36
NG_013091.1:g.13631_13642delinsCAAAGCTATGGA
NG_013364.1:g.3384_3395delinsCAAAGCTATGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.215-530_215-519delinsCAAAGCTATGGA (B9D2) MANE Select	ENSP00000243578.2:n.215-530_215-519delinsCAAAGCTATGGA
ENST00000675972.1:c.215-530_215-519delinsCAAAGCTATGGA (B9D2)	ENSP00000501911.1:n.215-530_215-519delinsCAAAGCTATGGA
ENST00000243578.7:c.215-530_215-519delinsCAAAGCTATGGA (B9D2)	ENSP00000243578.2:n.215-530_215-519delinsCAAAGCTATGGA
ENST00000539627.5:c.-30+4330_-30+4341delinsTCCATAGCTTTG (TMEM91)	ENSP00000441900.1:n.-30+4330_-30+4341delinsTCCATAGCTTTG
ENST00000594416.1:c.*61-530_*61-519delinsCAAAGCTATGGA (B9D2)	ENSP00000469666.1:n.*61-530_*61-519delinsCAAAGCTATGGA
ENST00000604123.5:c.142+1217_142+1228delinsTCCATAGCTTTG (TMEM91)	ENSP00000474871.1:n.142+1217_142+1228delinsTCCATAGCTTTG
ENST00000604424.1:n.350+4330_350+4341delinsTCCATAGCTTTG
NM_030578.3:c.215-530_215-519delinsCAAAGCTATGGA (B9D2)	NP_085055.2:n.215-530_215-519delinsCAAAGCTATGGA
XM_006723405.1:c.89-530_89-519delinsCAAAGCTATGGA (B9D2)	XP_006723468.1:n.89-530_89-519delinsCAAAGCTATGGA
XM_011527349.1:c.215-530_215-519delinsCAAAGCTATGGA (B9D2)	XP_011525651.1:n.215-530_215-519delinsCAAAGCTATGGA
XM_011527350.1:c.56-530_56-519delinsCAAAGCTATGGA (B9D2)	XP_011525652.1:n.56-530_56-519delinsCAAAGCTATGGA
XM_011527349.2:c.215-530_215-519delinsCAAAGCTATGGA (B9D2)	XP_011525651.1:n.215-530_215-519delinsCAAAGCTATGGA
XM_011527350.2:c.56-530_56-519delinsCAAAGCTATGGA (B9D2)	XP_011525652.1:n.56-530_56-519delinsCAAAGCTATGGA
NM_030578.4:c.215-530_215-519delinsCAAAGCTATGGA (B9D2) MANE Select	NP_085055.2:n.215-530_215-519delinsCAAAGCTATGGA