Canonical Allele Identifier: CA908655300

Gene: PDHB

Linked Data

• dbSNP Id: rs1318019314
• gnomAD v3: 3-58431043-TTTTTTA-T
• gnomAD v4: 3-58431043-TTTTTTA-T
• MyVariant Identifiers: chr3:g.58416771_58416776del (hg19) ; chr3:g.58431044_58431049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431055_58431060del , CM000665.2:g.58431055_58431060del	GRCh38
NC_000003.11:g.58416782_58416787del , CM000665.1:g.58416782_58416787del	GRCh37
NC_000003.10:g.58391822_58391827del	NCBI36
NG_016860.1:g.7804_7809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-107_304-102del MANE Select	ENSP00000307241.6:n.304-107_304-102del
ENST00000302746.10:c.304-107_304-102del	ENSP00000307241.6:n.304-107_304-102del
ENST00000383714.8:c.250-107_250-102del	ENSP00000373220.4:n.250-107_250-102del
ENST00000461692.5:n.417-107_417-102del
ENST00000469364.5:c.304-107_304-102del	ENSP00000419580.1:n.304-107_304-102del
ENST00000474765.1:c.250-107_250-102del	ENSP00000418448.1:n.250-107_250-102del
ENST00000479945.1:n.2602_2607del
ENST00000480626.5:n.396-107_396-102del
ENST00000485460.5:c.304-107_304-102del	ENSP00000417267.1:n.304-107_304-102del
NM_000925.3:c.304-107_304-102del	NP_000916.2:n.304-107_304-102del
NM_001173468.1:c.304-107_304-102del	NP_001166939.1:n.304-107_304-102del
NM_001315536.1:c.250-107_250-102del	NP_001302465.1:n.250-107_250-102del
NR_033384.1:n.417-107_417-102del
NM_000925.4:c.304-107_304-102del MANE Select	NP_000916.2:n.304-107_304-102del
NM_001173468.2:c.304-107_304-102del	NP_001166939.1:n.304-107_304-102del
NM_001315536.2:c.250-107_250-102del	NP_001302465.1:n.250-107_250-102del
NR_033384.2:n.410-107_410-102del