Canonical Allele Identifier: CA553633592

Gene: HADH

Linked Data

• dbSNP Id: rs1560738449
• gnomAD v2: 4-108948948-AC-A
• gnomAD v4: 4-108027792-AC-A
• MyVariant Identifiers: chr4:g.108948950_108948988delinsTCAGCTCCTGGCGCCACTGTCTGGAATTCTCAGTGTCT (hg19) ; chr4:g.108027794_108027832delinsTCAGCTCCTGGCGCCACTGTCTGGAATTCTCAGTGTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027794del , CM000666.2:g.108027794del	GRCh38
NC_000004.11:g.108948950del , CM000666.1:g.108948950del	GRCh37
NC_000004.10:g.109168399del	NCBI36
NG_008156.2:g.43011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4953del
ENST00000510728.6:n.1697+34del
ENST00000514776.3:n.176del
ENST00000515462.7:n.1930del
ENST00000626637.2:c.721+34del	ENSP00000486771.1:n.721+34del
ENST00000638648.2:c.721+34del	ENSP00000507949.1:n.721+34del
ENST00000640201.2:n.829del
ENST00000640752.2:n.4919+34del
ENST00000682067.1:c.542+34del
ENST00000682086.1:n.812del
ENST00000682373.1:c.368+34del
ENST00000684696.1:c.637-145del	ENSP00000507675.1:n.637-145del
ENST00000309522.8:c.709+34del MANE Select	ENSP00000312288.4:n.709+34del
ENST00000403312.6:c.709+34del	ENSP00000385638.3:n.709+34del
ENST00000505878.4:c.886+34del	ENSP00000425952.2:n.886+34del
ENST00000514776.2:n.176del
ENST00000515462.6:n.1930del
ENST00000638559.1:c.567+34del
ENST00000638621.1:c.295+34del	ENSP00000491581.1:n.295+34del
ENST00000638648.1:n.860+34del
ENST00000639146.1:c.709+34del	ENSP00000492345.1:n.709+34del
ENST00000639335.1:c.*144+34del	ENSP00000491310.1:n.*144+34del
ENST00000639698.1:c.516+4231del	ENSP00000492420.1:n.516+4231del
ENST00000639784.1:c.373+4231del
ENST00000640048.1:c.681+34del	ENSP00000492009.1:n.681+34del
ENST00000640060.1:c.*804+34del	ENSP00000492734.1:n.*804+34del
ENST00000640201.1:n.698del
ENST00000640752.1:n.4912+34del
ENST00000309522.7:c.709+34del	ENSP00000312288.3:n.709+34del
ENST00000403312.5:c.886+34del	ENSP00000385638.2:n.886+34del
ENST00000505878.3:c.721+34del	ENSP00000425952.1:n.721+34del
ENST00000507260.1:n.443del
ENST00000510728.5:n.249+34del
ENST00000515462.5:n.80del
ENST00000603302.5:c.709+34del	ENSP00000474560.1:n.709+34del
ENST00000626637.1:c.721+34del	ENSP00000486771.1:n.721+34del
NM_001184705.2:c.709+34del	NP_001171634.2:n.709+34del
NM_005327.4:c.709+34del	NP_005318.3:n.709+34del
XM_005262972.1:c.721+34del	XP_005263029.1:n.721+34del
XR_938726.1:n.892del
NM_001331027.1:c.721+34del	NP_001317956.1:n.721+34del
XR_001741214.2:n.803+34del
XR_002959727.1:n.837del
NM_001184705.3:c.709+34del	NP_001171634.2:n.709+34del
NM_005327.7:c.709+34del MANE Select	NP_005318.6:n.709+34del
NM_001184705.4:c.709+34del	NP_001171634.3:n.709+34del
NM_001331027.2:c.721+34del	NP_001317956.2:n.721+34del