Canonical Allele Identifier: CA308521176

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs11466313
• gnomAD v2: 19-41861337-C-CCCT
• gnomAD v3: 19-41355432-C-CCCT
• gnomAD v4: 19-41355432-C-CCCT
• MyVariant Identifiers: chr19:g.41861338_41861339insCTC (hg19) ; chr19:g.41861337_41861338insCCT (hg19) ; chr19:g.41355433_41355434insCTC (hg38) ; chr19:g.41355432_41355433insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355434_41355436dup , CM000681.2:g.41355434_41355436dup	GRCh38
NC_000019.9:g.41861339_41861341dup , CM000681.1:g.41861339_41861341dup	GRCh37
NC_000019.8:g.46553179_46553181dup	NCBI36
NG_013091.1:g.13739_13741dup
NG_013364.1:g.3492_3494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.215-422_215-420dup (B9D2) MANE Select	ENSP00000243578.2:n.215-422_215-420dup
ENST00000675972.1:c.215-422_215-420dup (B9D2)	ENSP00000501911.1:n.215-422_215-420dup
ENST00000243578.7:c.215-422_215-420dup (B9D2)	ENSP00000243578.2:n.215-422_215-420dup
ENST00000539627.5:c.-30+4232_-30+4234dup (TMEM91)	ENSP00000441900.1:n.-30+4232_-30+4234dup
ENST00000594416.1:c.*61-422_*61-420dup (B9D2)	ENSP00000469666.1:n.*61-422_*61-420dup
ENST00000604123.5:c.142+1119_142+1121dup (TMEM91)	ENSP00000474871.1:n.142+1119_142+1121dup
ENST00000604424.1:n.350+4232_350+4234dup
NM_030578.3:c.215-422_215-420dup (B9D2)	NP_085055.2:n.215-422_215-420dup
XM_006723405.1:c.89-422_89-420dup (B9D2)	XP_006723468.1:n.89-422_89-420dup
XM_011527349.1:c.215-422_215-420dup (B9D2)	XP_011525651.1:n.215-422_215-420dup
XM_011527350.1:c.56-422_56-420dup (B9D2)	XP_011525652.1:n.56-422_56-420dup
XM_011527349.2:c.215-422_215-420dup (B9D2)	XP_011525651.1:n.215-422_215-420dup
XM_011527350.2:c.56-422_56-420dup (B9D2)	XP_011525652.1:n.56-422_56-420dup
NM_030578.4:c.215-422_215-420dup (B9D2) MANE Select	NP_085055.2:n.215-422_215-420dup