Canonical Allele Identifier: CA882330703

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1244139931
• gnomAD v3: 19-41355450-GCT-G
• gnomAD v4: 19-41355450-GCT-G
• MyVariant Identifiers: chr19:g.41861356_41861357del (hg19) ; chr19:g.41355451_41355452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355455_41355456del , CM000681.2:g.41355455_41355456del	GRCh38
NC_000019.9:g.41861360_41861361del , CM000681.1:g.41861360_41861361del	GRCh37
NC_000019.8:g.46553200_46553201del	NCBI36
NG_013091.1:g.13722_13723del
NG_013364.1:g.3475_3476del

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.215-439_215-438del (B9D2) MANE Select	ENSP00000243578.2:n.215-439_215-438del
ENST00000675972.1:c.215-439_215-438del (B9D2)	ENSP00000501911.1:n.215-439_215-438del
ENST00000243578.7:c.215-439_215-438del (B9D2)	ENSP00000243578.2:n.215-439_215-438del
ENST00000539627.5:c.-30+4253_-30+4254del (TMEM91)	ENSP00000441900.1:n.-30+4253_-30+4254del
ENST00000594416.1:c.*61-439_*61-438del (B9D2)	ENSP00000469666.1:n.*61-439_*61-438del
ENST00000604123.5:c.142+1140_142+1141del (TMEM91)	ENSP00000474871.1:n.142+1140_142+1141del
ENST00000604424.1:n.350+4253_350+4254del
NM_030578.3:c.215-439_215-438del (B9D2)	NP_085055.2:n.215-439_215-438del
XM_006723405.1:c.89-439_89-438del (B9D2)	XP_006723468.1:n.89-439_89-438del
XM_011527349.1:c.215-439_215-438del (B9D2)	XP_011525651.1:n.215-439_215-438del
XM_011527350.1:c.56-439_56-438del (B9D2)	XP_011525652.1:n.56-439_56-438del
XM_011527349.2:c.215-439_215-438del (B9D2)	XP_011525651.1:n.215-439_215-438del
XM_011527350.2:c.56-439_56-438del (B9D2)	XP_011525652.1:n.56-439_56-438del
NM_030578.4:c.215-439_215-438del (B9D2) MANE Select	NP_085055.2:n.215-439_215-438del