Canonical Allele Identifier: CA2673274741

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13845030-C-CCAGCTTTGTGTGGTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13845030_13845031insCAGCTTTGTGTGGTTAT , CM000667.2:g.13845030_13845031insCAGCTTTGTGTGGTTAT	GRCh38
NC_000005.9:g.13845139_13845140insCAGCTTTGTGTGGTTAT , CM000667.1:g.13845139_13845140insCAGCTTTGTGTGGTTAT	GRCh37
NC_000005.8:g.13898139_13898140insCAGCTTTGTGTGGTTAT	NCBI36
NG_013081.1:g.104450_104451insATAACCACACAAAGCTG
NG_013081.2:g.104450_104451insATAACCACACAAAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5115-38_5115-37insATAACCACACAAAGCTG MANE Select	ENSP00000265104.4:n.5115-38_5115-37insATAACCACACAAAGCTG
ENST00000681290.1:c.5070-38_5070-37insATAACCACACAAAGCTG	ENSP00000505288.1:n.5070-38_5070-37insATAACCACACAAAGCTG
ENST00000265104.4:c.5115-38_5115-37insATAACCACACAAAGCTG	ENSP00000265104.4:n.5115-38_5115-37insATAACCACACAAAGCTG
NM_001369.2:c.5115-38_5115-37insATAACCACACAAAGCTG	NP_001360.1:n.5115-38_5115-37insATAACCACACAAAGCTG
XM_005248262.2:c.5070-38_5070-37insATAACCACACAAAGCTG	XP_005248319.1:n.5070-38_5070-37insATAACCACACAAAGCTG
XM_011513990.1:c.5115-38_5115-37insATAACCACACAAAGCTG	XP_011512292.1:n.5115-38_5115-37insATAACCACACAAAGCTG
XR_925598.1:n.5322-38_5322-37insATAACCACACAAAGCTG
XM_005248262.3:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_005248319.2:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009177.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864666.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009178.1:c.4128-38_4128-37insATAACCACACAAAGCTG	XP_016864667.1:n.4128-38_4128-37insATAACCACACAAAGCTG
XM_017009179.2:c.4128-38_4128-37insATAACCACACAAAGCTG	XP_016864668.1:n.4128-38_4128-37insATAACCACACAAAGCTG
XM_017009180.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864669.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009181.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864670.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009182.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864671.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009183.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864672.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009184.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864673.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_017009185.1:c.312-38_312-37insATAACCACACAAAGCTG	XP_016864674.1:n.312-38_312-37insATAACCACACAAAGCTG
XM_017009186.1:c.22-3127_22-3126insATAACCACACAAAGCTG	XP_016864675.1:n.22-3127_22-3126insATAACCACACAAAGCTG
XM_017009187.1:c.5223-38_5223-37insATAACCACACAAAGCTG	XP_016864676.1:n.5223-38_5223-37insATAACCACACAAAGCTG
XM_024454388.1:c.4128-38_4128-37insATAACCACACAAAGCTG	XP_024310156.1:n.4128-38_4128-37insATAACCACACAAAGCTG
XM_024454389.1:c.3717-38_3717-37insATAACCACACAAAGCTG	XP_024310157.1:n.3717-38_3717-37insATAACCACACAAAGCTG
XR_001742034.1:n.5240-38_5240-37insATAACCACACAAAGCTG
XR_001742035.1:n.5240-38_5240-37insATAACCACACAAAGCTG
NM_001369.3:c.5115-38_5115-37insATAACCACACAAAGCTG MANE Select	NP_001360.1:n.5115-38_5115-37insATAACCACACAAAGCTG