Canonical Allele Identifier: CA2578270076

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776744-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776746_13776747del , CM000667.2:g.13776746_13776747del	GRCh38
NC_000005.9:g.13776855_13776856del , CM000667.1:g.13776855_13776856del	GRCh37
NC_000005.8:g.13829855_13829856del	NCBI36
NG_013081.1:g.172735_172736del
NG_013081.2:g.172735_172736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9106-40_9106-39del MANE Select	ENSP00000265104.4:n.9106-40_9106-39del
ENST00000681290.1:c.9061-40_9061-39del	ENSP00000505288.1:n.9061-40_9061-39del
ENST00000265104.4:c.9106-40_9106-39del	ENSP00000265104.4:n.9106-40_9106-39del
NM_001369.2:c.9106-40_9106-39del	NP_001360.1:n.9106-40_9106-39del
XM_005248262.2:c.9061-40_9061-39del	XP_005248319.1:n.9061-40_9061-39del
XM_011513990.1:c.9101-40_9101-39del	XP_011512292.1:n.9101-40_9101-39del
XR_925598.1:n.9177-40_9177-39del
XM_005248262.3:c.9214-40_9214-39del	XP_005248319.2:n.9214-40_9214-39del
XM_017009177.1:c.9214-40_9214-39del	XP_016864666.1:n.9214-40_9214-39del
XM_017009178.1:c.8119-40_8119-39del	XP_016864667.1:n.8119-40_8119-39del
XM_017009179.2:c.8119-40_8119-39del	XP_016864668.1:n.8119-40_8119-39del
XM_017009180.1:c.9214-40_9214-39del	XP_016864669.1:n.9214-40_9214-39del
XM_017009181.1:c.9214-40_9214-39del	XP_016864670.1:n.9214-40_9214-39del
XM_017009182.1:c.9214-40_9214-39del	XP_016864671.1:n.9214-40_9214-39del
XM_017009183.1:c.9214-40_9214-39del	XP_016864672.1:n.9214-40_9214-39del
XM_017009184.1:c.9209-40_9209-39del	XP_016864673.1:n.9209-40_9209-39del
XM_017009185.1:c.4303-40_4303-39del	XP_016864674.1:n.4303-40_4303-39del
XM_017009186.1:c.3856-40_3856-39del	XP_016864675.1:n.3856-40_3856-39del
XM_017009188.1:c.3193-40_3193-39del	XP_016864677.1:n.3193-40_3193-39del
XM_024454388.1:c.8119-40_8119-39del	XP_024310156.1:n.8119-40_8119-39del
XM_024454389.1:c.7708-40_7708-39del	XP_024310157.1:n.7708-40_7708-39del
XR_001742034.1:n.9100-40_9100-39del
XR_001742035.1:n.9095-40_9095-39del
NM_001369.3:c.9106-40_9106-39del MANE Select	NP_001360.1:n.9106-40_9106-39del