Canonical Allele Identifier: CA2671694121

Gene: HADH

Linked Data

• gnomAD v4: 4-108027800-TCCTGGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027803_108027809del , CM000666.2:g.108027803_108027809del	GRCh38
NC_000004.11:g.108948959_108948965del , CM000666.1:g.108948959_108948965del	GRCh37
NC_000004.10:g.109168408_109168414del	NCBI36
NG_008156.2:g.43020_43026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4962_4968del
ENST00000510728.6:n.1697+43_1697+49del
ENST00000514776.3:n.185_191del
ENST00000515462.7:n.1939_1945del
ENST00000626637.2:c.721+43_721+49del	ENSP00000486771.1:n.721+43_721+49del
ENST00000638648.2:c.721+43_721+49del	ENSP00000507949.1:n.721+43_721+49del
ENST00000640201.2:n.838_844del
ENST00000640752.2:n.4919+43_4919+49del
ENST00000682067.1:c.542+43_542+49del
ENST00000682086.1:n.821_827del
ENST00000682373.1:c.368+43_368+49del
ENST00000684696.1:c.637-136_637-130del	ENSP00000507675.1:n.637-136_637-130del
ENST00000309522.8:c.709+43_709+49del MANE Select	ENSP00000312288.4:n.709+43_709+49del
ENST00000403312.6:c.709+43_709+49del	ENSP00000385638.3:n.709+43_709+49del
ENST00000505878.4:c.886+43_886+49del	ENSP00000425952.2:n.886+43_886+49del
ENST00000514776.2:n.185_191del
ENST00000515462.6:n.1939_1945del
ENST00000638559.1:c.567+43_567+49del
ENST00000638621.1:c.295+43_295+49del	ENSP00000491581.1:n.295+43_295+49del
ENST00000638648.1:n.860+43_860+49del
ENST00000639146.1:c.709+43_709+49del	ENSP00000492345.1:n.709+43_709+49del
ENST00000639335.1:c.*144+43_*144+49del	ENSP00000491310.1:n.*144+43_*144+49del
ENST00000639698.1:c.516+4240_516+4246del	ENSP00000492420.1:n.516+4240_516+4246del
ENST00000639784.1:c.373+4240_373+4246del
ENST00000640048.1:c.681+43_681+49del	ENSP00000492009.1:n.681+43_681+49del
ENST00000640060.1:c.*804+43_*804+49del	ENSP00000492734.1:n.*804+43_*804+49del
ENST00000640201.1:n.707_713del
ENST00000640752.1:n.4912+43_4912+49del
ENST00000309522.7:c.709+43_709+49del	ENSP00000312288.3:n.709+43_709+49del
ENST00000403312.5:c.886+43_886+49del	ENSP00000385638.2:n.886+43_886+49del
ENST00000505878.3:c.721+43_721+49del	ENSP00000425952.1:n.721+43_721+49del
ENST00000507260.1:n.452_458del
ENST00000510728.5:n.249+43_249+49del
ENST00000515462.5:n.89_95del
ENST00000603302.5:c.709+43_709+49del	ENSP00000474560.1:n.709+43_709+49del
ENST00000626637.1:c.721+43_721+49del	ENSP00000486771.1:n.721+43_721+49del
NM_001184705.2:c.709+43_709+49del	NP_001171634.2:n.709+43_709+49del
NM_005327.4:c.709+43_709+49del	NP_005318.3:n.709+43_709+49del
XM_005262972.1:c.721+43_721+49del	XP_005263029.1:n.721+43_721+49del
XR_938726.1:n.901_907del
NM_001331027.1:c.721+43_721+49del	NP_001317956.1:n.721+43_721+49del
XR_001741214.2:n.803+43_803+49del
XR_002959727.1:n.846_852del
NM_001184705.3:c.709+43_709+49del	NP_001171634.2:n.709+43_709+49del
NM_005327.7:c.709+43_709+49del MANE Select	NP_005318.6:n.709+43_709+49del
NM_001184705.4:c.709+43_709+49del	NP_001171634.3:n.709+43_709+49del
NM_001331027.2:c.721+43_721+49del	NP_001317956.2:n.721+43_721+49del