Canonical Allele Identifier: CA995965326

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs2038296848
• gnomAD v3: 19-41355388-CCCAGGTAA-C
• gnomAD v4: 19-41355388-CCCAGGTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355392_41355399del , CM000681.2:g.41355392_41355399del	GRCh38
NC_000019.9:g.41861297_41861304del , CM000681.1:g.41861297_41861304del	GRCh37
NC_000019.8:g.46553137_46553144del	NCBI36
NG_013091.1:g.13778_13785del
NG_013364.1:g.3531_3538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.215-383_215-376del (B9D2) MANE Select	ENSP00000243578.2:n.215-383_215-376del
ENST00000675972.1:c.215-383_215-376del (B9D2)	ENSP00000501911.1:n.215-383_215-376del
ENST00000243578.7:c.215-383_215-376del (B9D2)	ENSP00000243578.2:n.215-383_215-376del
ENST00000539627.5:c.-30+4190_-30+4197del (TMEM91)	ENSP00000441900.1:n.-30+4190_-30+4197del
ENST00000594416.1:c.*61-383_*61-376del (B9D2)	ENSP00000469666.1:n.*61-383_*61-376del
ENST00000604123.5:c.142+1077_142+1084del (TMEM91)	ENSP00000474871.1:n.142+1077_142+1084del
ENST00000604424.1:n.350+4190_350+4197del
NM_030578.3:c.215-383_215-376del (B9D2)	NP_085055.2:n.215-383_215-376del
XM_006723405.1:c.89-383_89-376del (B9D2)	XP_006723468.1:n.89-383_89-376del
XM_011527349.1:c.215-383_215-376del (B9D2)	XP_011525651.1:n.215-383_215-376del
XM_011527350.1:c.56-383_56-376del (B9D2)	XP_011525652.1:n.56-383_56-376del
XM_011527349.2:c.215-383_215-376del (B9D2)	XP_011525651.1:n.215-383_215-376del
XM_011527350.2:c.56-383_56-376del (B9D2)	XP_011525652.1:n.56-383_56-376del
NM_030578.4:c.215-383_215-376del (B9D2) MANE Select	NP_085055.2:n.215-383_215-376del