Canonical Allele Identifier: CA2580614903

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 2501263
• ClinVar RCV Id: RCV003226860

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363487delinsCA , CM000681.2:g.41363487delinsCA	GRCh38
NC_000019.9:g.41869392delinsCA , CM000681.1:g.41869392delinsCA	GRCh37
NC_000019.8:g.46561232delinsCA	NCBI36
NG_013091.1:g.5687delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.33delinsTG (B9D2) MANE Select	ENSP00000243578.2:p.Ala13GlyfsTer8
ENST00000675972.1:c.33delinsTG (B9D2)	ENSP00000501911.1:p.Ala13GlyfsTer8
ENST00000243578.7:c.33delinsTG (B9D2)	ENSP00000243578.2:p.Ala13GlyfsTer8
ENST00000539627.5:c.-30+12285delinsCA (TMEM91)	ENSP00000441900.1:n.-30+12285delinsCA
ENST00000594416.1:c.33delinsTG (B9D2)	ENSP00000469666.1:p.Ala13GlyfsTer8
ENST00000601597.1:n.172delinsTG (B9D2)
ENST00000604123.5:c.142+9172delinsCA (TMEM91)	ENSP00000474871.1:n.142+9172delinsCA
ENST00000604424.1:n.350+12285delinsCA
NM_030578.3:c.33delinsTG (B9D2)	NP_085055.2:p.Ala13GlyfsTer8
XM_006723405.1:c.33delinsTG (B9D2)	XP_006723468.1:p.Ala13GlyfsTer8
XM_011527349.1:c.33delinsTG (B9D2)	XP_011525651.1:p.Ala13GlyfsTer8
XM_011527350.1:c.-72+471delinsTG (B9D2)	XP_011525652.1:n.-72+471delinsTG
XM_011527349.2:c.33delinsTG (B9D2)	XP_011525651.1:p.Ala13GlyfsTer8
XM_011527350.2:c.-72+471delinsTG (B9D2)	XP_011525652.1:n.-72+471delinsTG
NM_030578.4:c.33delinsTG (B9D2) MANE Select	NP_085055.2:p.Ala13GlyfsTer8