Canonical Allele Identifier: CA995970474

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs2038452595
• gnomAD v3: 19-41363649-CCT-C
• gnomAD v4: 19-41363649-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363650_41363651del , CM000681.2:g.41363650_41363651del	GRCh38
NC_000019.9:g.41869555_41869556del , CM000681.1:g.41869555_41869556del	GRCh37
NC_000019.8:g.46561395_46561396del	NCBI36
NG_013091.1:g.5523_5524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-4-128_-4-127del (B9D2) MANE Select	ENSP00000243578.2:n.-4-128_-4-127del
ENST00000675972.1:c.-5+113_-5+114del (B9D2)	ENSP00000501911.1:n.-5+113_-5+114del
ENST00000243578.7:c.-4-128_-4-127del (B9D2)	ENSP00000243578.2:n.-4-128_-4-127del
ENST00000539627.5:c.-30+12448_-30+12449del (TMEM91)	ENSP00000441900.1:n.-30+12448_-30+12449del
ENST00000594416.1:c.-4-128_-4-127del (B9D2)	ENSP00000469666.1:n.-4-128_-4-127del
ENST00000601597.1:n.136-128_136-127del (B9D2)
ENST00000604123.5:c.142+9335_142+9336del (TMEM91)	ENSP00000474871.1:n.142+9335_142+9336del
ENST00000604424.1:n.350+12448_350+12449del
NM_030578.3:c.-4-128_-4-127del (B9D2)	NP_085055.2:n.-4-128_-4-127del
XM_006723405.1:c.-4-128_-4-127del (B9D2)	XP_006723468.1:n.-4-128_-4-127del
XM_011527349.1:c.-5+113_-5+114del (B9D2)	XP_011525651.1:n.-5+113_-5+114del
XM_011527350.1:c.-72+307_-72+308del (B9D2)	XP_011525652.1:n.-72+307_-72+308del
XM_011527349.2:c.-5+113_-5+114del (B9D2)	XP_011525651.1:n.-5+113_-5+114del
XM_011527350.2:c.-72+307_-72+308del (B9D2)	XP_011525652.1:n.-72+307_-72+308del
NM_030578.4:c.-4-128_-4-127del (B9D2) MANE Select	NP_085055.2:n.-4-128_-4-127del