Canonical Allele Identifier: CA2580072197

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724720
• ClinVar RCV Id: RCV002309988

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769088_13769089delinsAGTTCCGCA , CM000667.2:g.13769088_13769089delinsAGTTCCGCA	GRCh38
NC_000005.9:g.13769197_13769198delinsAGTTCCGCA , CM000667.1:g.13769197_13769198delinsAGTTCCGCA	GRCh37
NC_000005.8:g.13822197_13822198delinsAGTTCCGCA	NCBI36
NG_013081.1:g.180392_180393delinsTGCGGAACT
NG_013081.2:g.180392_180393delinsTGCGGAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9768_9769delinsTGCGGAACT MANE Select	ENSP00000265104.4:p.Lys3256AsnfsTer5
ENST00000681290.1:c.9723_9724delinsTGCGGAACT	ENSP00000505288.1:p.Lys3241AsnfsTer5
ENST00000265104.4:c.9768_9769delinsTGCGGAACT	ENSP00000265104.4:p.Lys3256AsnfsTer5
ENST00000504001.3:n.480_481delinsTGCGGAACT
NM_001369.2:c.9768_9769delinsTGCGGAACT	NP_001360.1:p.Lys3256AsnfsTer5
XM_005248262.2:c.9723_9724delinsTGCGGAACT	XP_005248319.1:p.Lys3241AsnfsTer5
XM_005248262.3:c.9876_9877delinsTGCGGAACT	XP_005248319.2:p.Lys3292AsnfsTer5
XM_017009177.1:c.9876_9877delinsTGCGGAACT	XP_016864666.1:p.Lys3292AsnfsTer5
XM_017009178.1:c.8781_8782delinsTGCGGAACT	XP_016864667.1:p.Lys2927AsnfsTer5
XM_017009179.2:c.8781_8782delinsTGCGGAACT	XP_016864668.1:p.Lys2927AsnfsTer5
XM_017009180.1:c.9876_9877delinsTGCGGAACT	XP_016864669.1:p.Lys3292AsnfsTer5
XM_017009181.1:c.9876_9877delinsTGCGGAACT	XP_016864670.1:p.Lys3292AsnfsTer5
XM_017009182.1:c.9876_9877delinsTGCGGAACT	XP_016864671.1:p.Lys3292AsnfsTer5
XM_017009185.1:c.4965_4966delinsTGCGGAACT	XP_016864674.1:p.Lys1655AsnfsTer5
XM_017009186.1:c.4518_4519delinsTGCGGAACT	XP_016864675.1:p.Lys1506AsnfsTer5
XM_017009188.1:c.3855_3856delinsTGCGGAACT	XP_016864677.1:p.Lys1285AsnfsTer5
XM_024454388.1:c.8781_8782delinsTGCGGAACT	XP_024310156.1:p.Lys2927AsnfsTer5
XM_024454389.1:c.8370_8371delinsTGCGGAACT	XP_024310157.1:p.Lys2790AsnfsTer5
NM_001369.3:c.9768_9769delinsTGCGGAACT MANE Select	NP_001360.1:p.Lys3256AsnfsTer5