Canonical Allele Identifier: CA1139658104

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 955705
• ClinVar RCV Id: RCV001228389 ; RCV001580363
• dbSNP Id: rs1702487234

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353584_52353585delinsAT , CM000665.2:g.52353584_52353585delinsAT	GRCh38
NC_000003.11:g.52387600_52387601delinsAT , CM000665.1:g.52387600_52387601delinsAT	GRCh37
NC_000003.10:g.52362640_52362641delinsAT	NCBI36
NG_052911.1:g.42266_42267delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3431_3432delinsAT MANE Select	ENSP00000401514.2:p.Ser1144Asn
ENST00000420323.6:c.3431_3432delinsAT	ENSP00000401514.2:p.Ser1144Asn
ENST00000486752.5:n.3692_3693delinsAT
ENST00000497875.1:n.3596_3597delinsAT
NM_015512.4:c.3431_3432delinsAT	NP_056327.4:p.Ser1144Asn
XM_011533577.1:c.3431_3432delinsAT	XP_011531879.1:p.Ser1144Asn
XM_017006129.1:c.3431_3432delinsAT	XP_016861618.1:p.Ser1144Asn
XM_017006130.1:c.3431_3432delinsAT	XP_016861619.1:p.Ser1144Asn
XM_017006131.1:c.3431_3432delinsAT	XP_016861620.1:p.Ser1144Asn
XM_017006132.1:c.3431_3432delinsAT	XP_016861621.1:p.Ser1144Asn
XM_017006133.1:c.3431_3432delinsAT	XP_016861622.1:p.Ser1144Asn
XR_001740098.1:n.6580_6581delinsAT
XR_001740099.1:n.6580_6581delinsAT
NM_015512.5:c.3431_3432delinsAT MANE Select	NP_056327.4:p.Ser1144Asn