Canonical Allele Identifier: CA2585300168

Gene: B9D2 TMEM91

Linked Data

• gnomAD v4: 19-41363826-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363830del , CM000681.2:g.41363830del	GRCh38
NC_000019.9:g.41869735del , CM000681.1:g.41869735del	GRCh37
NC_000019.8:g.46561575del	NCBI36
NG_013091.1:g.5347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-5+131del (B9D2) MANE Select	ENSP00000243578.2:n.-5+131del
ENST00000675972.1:c.-68del (B9D2)	ENSP00000501911.1:n.-68del
ENST00000243578.7:c.-5+131del (B9D2)	ENSP00000243578.2:n.-5+131del
ENST00000539627.5:c.-30+12628del (TMEM91)	ENSP00000441900.1:n.-30+12628del
ENST00000594416.1:c.-5+131del (B9D2)	ENSP00000469666.1:n.-5+131del
ENST00000601597.1:n.135+131del (B9D2)
ENST00000604123.5:c.142+9515del (TMEM91)	ENSP00000474871.1:n.142+9515del
ENST00000604424.1:n.350+12628del
NM_030578.3:c.-5+131del (B9D2)	NP_085055.2:n.-5+131del
XM_006723405.1:c.-5+131del (B9D2)	XP_006723468.1:n.-5+131del
XM_011527349.1:c.-68del (B9D2)	XP_011525651.1:n.-68del
XM_011527350.1:c.-72+131del (B9D2)	XP_011525652.1:n.-72+131del
XM_011527349.2:c.-68del (B9D2)	XP_011525651.1:n.-68del
XM_011527350.2:c.-72+131del (B9D2)	XP_011525652.1:n.-72+131del
NM_030578.4:c.-5+131del (B9D2) MANE Select	NP_085055.2:n.-5+131del