Canonical Allele Identifier: CA3203706

Gene: DNAH5

Linked Data

• dbSNP Id: rs753882359
• ExAC: 5:13841996 C / CTGAGATTCTTCCAAAAG
• MyVariant Identifiers: chr5:g.13841996_13841997insTGAGATTCTTCCAAAAG (hg19) ; chr5:g.13841887_13841888insTGAGATTCTTCCAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841887_13841888insTGAGATTCTTCCAAAAG , CM000667.2:g.13841887_13841888insTGAGATTCTTCCAAAAG	GRCh38
NC_000005.9:g.13841996_13841997insTGAGATTCTTCCAAAAG , CM000667.1:g.13841996_13841997insTGAGATTCTTCCAAAAG	GRCh37
NC_000005.8:g.13894996_13894997insTGAGATTCTTCCAAAAG	NCBI36
NG_013081.1:g.107593_107594insCTTTTGGAAGAATCTCA
NG_013081.2:g.107593_107594insCTTTTGGAAGAATCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5288_5289insCTTTTGGAAGAATCTCA MANE Select	ENSP00000265104.4:p.Ser1764PhefsTer?
ENST00000681290.1:c.5243_5244insCTTTTGGAAGAATCTCA	ENSP00000505288.1:p.Ser1749PhefsTer?
ENST00000265104.4:c.5288_5289insCTTTTGGAAGAATCTCA	ENSP00000265104.4:p.Ser1764PhefsTer?
NM_001369.2:c.5288_5289insCTTTTGGAAGAATCTCA	NP_001360.1:p.Ser1764PhefsTer?
XM_005248262.2:c.5243_5244insCTTTTGGAAGAATCTCA	XP_005248319.1:p.Ser1749PhefsTer?
XM_011513990.1:c.5288_5289insCTTTTGGAAGAATCTCA	XP_011512292.1:p.Ser1764PhefsTer?
XR_925598.1:n.5495_5496insCTTTTGGAAGAATCTCA
XM_005248262.3:c.5396_5397insCTTTTGGAAGAATCTCA	XP_005248319.2:p.Ser1800PhefsTer?
XM_017009177.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864666.1:p.Ser1800PhefsTer?
XM_017009178.1:c.4301_4302insCTTTTGGAAGAATCTCA	XP_016864667.1:p.Ser1435PhefsTer?
XM_017009179.2:c.4301_4302insCTTTTGGAAGAATCTCA	XP_016864668.1:p.Ser1435PhefsTer?
XM_017009180.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864669.1:p.Ser1800PhefsTer?
XM_017009181.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864670.1:p.Ser1800PhefsTer?
XM_017009182.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864671.1:p.Ser1800PhefsTer?
XM_017009183.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864672.1:p.Ser1800PhefsTer?
XM_017009184.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864673.1:p.Ser1800PhefsTer?
XM_017009185.1:c.485_486insCTTTTGGAAGAATCTCA	XP_016864674.1:p.Ser163PhefsTer?
XM_017009186.1:c.38_39insCTTTTGGAAGAATCTCA	XP_016864675.1:p.Ser14PhefsTer?
XM_017009187.1:c.5396_5397insCTTTTGGAAGAATCTCA	XP_016864676.1:p.Ser1800PhefsTer?
XM_024454388.1:c.4301_4302insCTTTTGGAAGAATCTCA	XP_024310156.1:p.Ser1435PhefsTer?
XM_024454389.1:c.3890_3891insCTTTTGGAAGAATCTCA	XP_024310157.1:p.Ser1298PhefsTer?
XR_001742034.1:n.5413_5414insCTTTTGGAAGAATCTCA
XR_001742035.1:n.5413_5414insCTTTTGGAAGAATCTCA
NM_001369.3:c.5288_5289insCTTTTGGAAGAATCTCA MANE Select	NP_001360.1:p.Ser1764PhefsTer?