Canonical Allele Identifier: CA995970485

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs2038453452
• gnomAD v3: 19-41363689-CCATGAAAGCCT-C
• gnomAD v4: 19-41363689-CCATGAAAGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363690_41363700del , CM000681.2:g.41363690_41363700del	GRCh38
NC_000019.9:g.41869595_41869605del , CM000681.1:g.41869595_41869605del	GRCh37
NC_000019.8:g.46561435_46561445del	NCBI36
NG_013091.1:g.5474_5484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-4-177_-4-167del (B9D2) MANE Select	ENSP00000243578.2:n.-4-177_-4-167del
ENST00000675972.1:c.-5+64_-5+74del (B9D2)	ENSP00000501911.1:n.-5+64_-5+74del
ENST00000243578.7:c.-4-177_-4-167del (B9D2)	ENSP00000243578.2:n.-4-177_-4-167del
ENST00000539627.5:c.-30+12488_-30+12498del (TMEM91)	ENSP00000441900.1:n.-30+12488_-30+12498del
ENST00000594416.1:c.-4-177_-4-167del (B9D2)	ENSP00000469666.1:n.-4-177_-4-167del
ENST00000601597.1:n.136-177_136-167del (B9D2)
ENST00000604123.5:c.142+9375_142+9385del (TMEM91)	ENSP00000474871.1:n.142+9375_142+9385del
ENST00000604424.1:n.350+12488_350+12498del
NM_030578.3:c.-4-177_-4-167del (B9D2)	NP_085055.2:n.-4-177_-4-167del
XM_006723405.1:c.-4-177_-4-167del (B9D2)	XP_006723468.1:n.-4-177_-4-167del
XM_011527349.1:c.-5+64_-5+74del (B9D2)	XP_011525651.1:n.-5+64_-5+74del
XM_011527350.1:c.-72+258_-72+268del (B9D2)	XP_011525652.1:n.-72+258_-72+268del
XM_011527349.2:c.-5+64_-5+74del (B9D2)	XP_011525651.1:n.-5+64_-5+74del
XM_011527350.2:c.-72+258_-72+268del (B9D2)	XP_011525652.1:n.-72+258_-72+268del
NM_030578.4:c.-4-177_-4-167del (B9D2) MANE Select	NP_085055.2:n.-4-177_-4-167del