Canonical Allele Identifier: CA557871714

Gene: DNAH5

Linked Data

• dbSNP Id: rs1371261705
• gnomAD v2: 5-13841997-A-AG
• MyVariant Identifiers: chr5:g.13841997_13841998insG (hg19) ; chr5:g.13841888_13841889insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841889dup , CM000667.2:g.13841889dup	GRCh38
NC_000005.9:g.13841998dup , CM000667.1:g.13841998dup	GRCh37
NC_000005.8:g.13894998dup	NCBI36
NG_013081.1:g.107592dup
NG_013081.2:g.107592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5287dup MANE Select	ENSP00000265104.4:p.Leu1763ProfsTer9
ENST00000681290.1:c.5242dup	ENSP00000505288.1:p.Leu1748ProfsTer9
ENST00000265104.4:c.5287dup	ENSP00000265104.4:p.Leu1763ProfsTer9
NM_001369.2:c.5287dup	NP_001360.1:p.Leu1763ProfsTer9
XM_005248262.2:c.5242dup	XP_005248319.1:p.Leu1748ProfsTer9
XM_011513990.1:c.5287dup	XP_011512292.1:p.Leu1763ProfsTer9
XR_925598.1:n.5494dup
XM_005248262.3:c.5395dup	XP_005248319.2:p.Leu1799ProfsTer9
XM_017009177.1:c.5395dup	XP_016864666.1:p.Leu1799ProfsTer9
XM_017009178.1:c.4300dup	XP_016864667.1:p.Leu1434ProfsTer9
XM_017009179.2:c.4300dup	XP_016864668.1:p.Leu1434ProfsTer9
XM_017009180.1:c.5395dup	XP_016864669.1:p.Leu1799ProfsTer9
XM_017009181.1:c.5395dup	XP_016864670.1:p.Leu1799ProfsTer9
XM_017009182.1:c.5395dup	XP_016864671.1:p.Leu1799ProfsTer9
XM_017009183.1:c.5395dup	XP_016864672.1:p.Leu1799ProfsTer9
XM_017009184.1:c.5395dup	XP_016864673.1:p.Leu1799ProfsTer9
XM_017009185.1:c.484dup	XP_016864674.1:p.Leu162ProfsTer9
XM_017009186.1:c.37dup	XP_016864675.1:p.Leu13ProfsTer9
XM_017009187.1:c.5395dup	XP_016864676.1:p.Leu1799ProfsTer9
XM_024454388.1:c.4300dup	XP_024310156.1:p.Leu1434ProfsTer9
XM_024454389.1:c.3889dup	XP_024310157.1:p.Leu1297ProfsTer9
XR_001742034.1:n.5412dup
XR_001742035.1:n.5412dup
NM_001369.3:c.5287dup MANE Select	NP_001360.1:p.Leu1763ProfsTer9