Canonical Allele Identifier: CA645541022

Gene: DNAH5

Linked Data

• COSMIC: COSM4774404

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793563_13793564del , CM000667.2:g.13793563_13793564del	GRCh38
NC_000005.9:g.13793672_13793673del , CM000667.1:g.13793672_13793673del	GRCh37
NC_000005.8:g.13846672_13846673del	NCBI36
NG_013081.1:g.155920_155921del
NG_013081.2:g.155920_155921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8178_8179del MANE Select	ENSP00000265104.4:p.Phe2727Ter
ENST00000681290.1:c.8133_8134del	ENSP00000505288.1:p.Phe2712Ter
ENST00000265104.4:c.8178_8179del	ENSP00000265104.4:p.Phe2727Ter
NM_001369.2:c.8178_8179del	NP_001360.1:p.Phe2727Ter
XM_005248262.2:c.8133_8134del	XP_005248319.1:p.Phe2712Ter
XM_011513990.1:c.8178_8179del	XP_011512292.1:p.Phe2727Ter
XR_925598.1:n.8385_8386del
XM_005248262.3:c.8286_8287del	XP_005248319.2:p.Phe2763Ter
XM_017009177.1:c.8286_8287del	XP_016864666.1:p.Phe2763Ter
XM_017009178.1:c.7191_7192del	XP_016864667.1:p.Phe2398Ter
XM_017009179.2:c.7191_7192del	XP_016864668.1:p.Phe2398Ter
XM_017009180.1:c.8286_8287del	XP_016864669.1:p.Phe2763Ter
XM_017009181.1:c.8286_8287del	XP_016864670.1:p.Phe2763Ter
XM_017009182.1:c.8286_8287del	XP_016864671.1:p.Phe2763Ter
XM_017009183.1:c.8286_8287del	XP_016864672.1:p.Phe2763Ter
XM_017009184.1:c.8286_8287del	XP_016864673.1:p.Phe2763Ter
XM_017009185.1:c.3375_3376del	XP_016864674.1:p.Phe1126Ter
XM_017009186.1:c.2928_2929del	XP_016864675.1:p.Phe977Ter
XM_017009188.1:c.2265_2266del	XP_016864677.1:p.Phe756Ter
XM_024454388.1:c.7191_7192del	XP_024310156.1:p.Phe2398Ter
XM_024454389.1:c.6780_6781del	XP_024310157.1:p.Phe2261Ter
XR_001742034.1:n.8303_8304del
XR_001742035.1:n.8303_8304del
NM_001369.3:c.8178_8179del MANE Select	NP_001360.1:p.Phe2727Ter