Canonical Allele Identifier: CA882330742

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1271923148
• gnomAD v3: 19-41355541-TTGCCCA-T
• gnomAD v4: 19-41355541-TTGCCCA-T
• MyVariant Identifiers: chr19:g.41861447_41861452del (hg19) ; chr19:g.41355542_41355547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355544_41355549del , CM000681.2:g.41355544_41355549del	GRCh38
NC_000019.9:g.41861449_41861454del , CM000681.1:g.41861449_41861454del	GRCh37
NC_000019.8:g.46553289_46553294del	NCBI36
NG_013091.1:g.13627_13632del
NG_013364.1:g.3380_3385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.215-534_215-529del (B9D2) MANE Select	ENSP00000243578.2:n.215-534_215-529del
ENST00000675972.1:c.215-534_215-529del (B9D2)	ENSP00000501911.1:n.215-534_215-529del
ENST00000243578.7:c.215-534_215-529del (B9D2)	ENSP00000243578.2:n.215-534_215-529del
ENST00000539627.5:c.-30+4342_-30+4347del (TMEM91)	ENSP00000441900.1:n.-30+4342_-30+4347del
ENST00000594416.1:c.*61-534_*61-529del (B9D2)	ENSP00000469666.1:n.*61-534_*61-529del
ENST00000604123.5:c.142+1229_142+1234del (TMEM91)	ENSP00000474871.1:n.142+1229_142+1234del
ENST00000604424.1:n.350+4342_350+4347del
NM_030578.3:c.215-534_215-529del (B9D2)	NP_085055.2:n.215-534_215-529del
XM_006723405.1:c.89-534_89-529del (B9D2)	XP_006723468.1:n.89-534_89-529del
XM_011527349.1:c.215-534_215-529del (B9D2)	XP_011525651.1:n.215-534_215-529del
XM_011527350.1:c.56-534_56-529del (B9D2)	XP_011525652.1:n.56-534_56-529del
XM_011527349.2:c.215-534_215-529del (B9D2)	XP_011525651.1:n.215-534_215-529del
XM_011527350.2:c.56-534_56-529del (B9D2)	XP_011525652.1:n.56-534_56-529del
NM_030578.4:c.215-534_215-529del (B9D2) MANE Select	NP_085055.2:n.215-534_215-529del