Canonical Allele Identifier: CA633168685

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs1274098629
• gnomAD v2: 19-41869813-CAGGTCCGA-C
• gnomAD v3: 19-41363908-CAGGTCCGA-C
• gnomAD v4: 19-41363908-CAGGTCCGA-C
• MyVariant Identifiers: chr19:g.41869814_41869821del (hg19) ; chr19:g.41363909_41363916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363909_41363916del , CM000681.2:g.41363909_41363916del	GRCh38
NC_000019.9:g.41869814_41869821del , CM000681.1:g.41869814_41869821del	GRCh37
NC_000019.8:g.46561654_46561661del	NCBI36
NG_013091.1:g.5258_5265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.-5+42_-5+49del (B9D2) MANE Select	ENSP00000243578.2:n.-5+42_-5+49del
ENST00000675972.1:c.-157_-150del (B9D2)	ENSP00000501911.1:n.-157_-150del
ENST00000243578.7:c.-5+42_-5+49del (B9D2)	ENSP00000243578.2:n.-5+42_-5+49del
ENST00000539627.5:c.-30+12707_-30+12714del (TMEM91)	ENSP00000441900.1:n.-30+12707_-30+12714del
ENST00000594416.1:c.-5+42_-5+49del (B9D2)	ENSP00000469666.1:n.-5+42_-5+49del
ENST00000601597.1:n.135+42_135+49del (B9D2)
ENST00000604123.5:c.142+9594_142+9601del (TMEM91)	ENSP00000474871.1:n.142+9594_142+9601del
ENST00000604424.1:n.350+12707_350+12714del
NM_030578.3:c.-5+42_-5+49del (B9D2)	NP_085055.2:n.-5+42_-5+49del
XM_006723405.1:c.-5+42_-5+49del (B9D2)	XP_006723468.1:n.-5+42_-5+49del
XM_011527350.1:c.-72+42_-72+49del (B9D2)	XP_011525652.1:n.-72+42_-72+49del
XM_011527349.2:c.-157_-150del (B9D2)	XP_011525651.1:n.-157_-150del
XM_011527350.2:c.-72+42_-72+49del (B9D2)	XP_011525652.1:n.-72+42_-72+49del
NM_030578.4:c.-5+42_-5+49del (B9D2) MANE Select	NP_085055.2:n.-5+42_-5+49del