Canonical Allele Identifier: CA1528435018

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776446_13776447delinsTA , CM000667.2:g.13776446_13776447delinsTA	GRCh38
NC_000005.9:g.13776555_13776556delinsTA , CM000667.1:g.13776555_13776556delinsTA	GRCh37
NC_000005.8:g.13829555_13829556delinsTA	NCBI36
NG_013081.1:g.173034_173035delinsTA
NG_013081.2:g.173034_173035delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9365_9366delinsTA MANE Select	ENSP00000265104.4:p.Leu3122=
ENST00000681290.1:c.9320_9321delinsTA	ENSP00000505288.1:p.Leu3107=
ENST00000265104.4:c.9365_9366delinsTA	ENSP00000265104.4:p.Leu3122=
NM_001369.2:c.9365_9366delinsTA	NP_001360.1:p.Leu3122=
XM_005248262.2:c.9320_9321delinsTA	XP_005248319.1:p.Leu3107=
XM_005248262.3:c.9473_9474delinsTA	XP_005248319.2:p.Leu3158=
XM_017009177.1:c.9473_9474delinsTA	XP_016864666.1:p.Leu3158=
XM_017009178.1:c.8378_8379delinsTA	XP_016864667.1:p.Leu2793=
XM_017009179.2:c.8378_8379delinsTA	XP_016864668.1:p.Leu2793=
XM_017009180.1:c.9473_9474delinsTA	XP_016864669.1:p.Leu3158=
XM_017009181.1:c.9473_9474delinsTA	XP_016864670.1:p.Leu3158=
XM_017009182.1:c.9473_9474delinsTA	XP_016864671.1:p.Leu3158=
XM_017009183.1:c.9473_9474delinsTA	XP_016864672.1:p.Leu3158=
XM_017009185.1:c.4562_4563delinsTA	XP_016864674.1:p.Leu1521=
XM_017009186.1:c.4115_4116delinsTA	XP_016864675.1:p.Leu1372=
XM_017009188.1:c.3452_3453delinsTA	XP_016864677.1:p.Leu1151=
XM_024454388.1:c.8378_8379delinsTA	XP_024310156.1:p.Leu2793=
XM_024454389.1:c.7967_7968delinsTA	XP_024310157.1:p.Leu2656=
NM_001369.3:c.9365_9366delinsTA MANE Select	NP_001360.1:p.Leu3122=