Canonical Allele Identifier: CA2739274579

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2837004
• ClinVar RCV Id: RCV003651314

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792104del , CM000667.2:g.13792104del	GRCh38
NC_000005.9:g.13792213del , CM000667.1:g.13792213del	GRCh37
NC_000005.8:g.13845213del	NCBI36
NG_013081.1:g.157380del
NG_013081.2:g.157380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8341del MANE Select	ENSP00000265104.4:p.Met2781CysfsTer25
ENST00000681290.1:c.8296del	ENSP00000505288.1:p.Met2766CysfsTer25
ENST00000265104.4:c.8341del	ENSP00000265104.4:p.Met2781CysfsTer25
NM_001369.2:c.8341del	NP_001360.1:p.Met2781CysfsTer25
XM_005248262.2:c.8296del	XP_005248319.1:p.Met2766CysfsTer25
XM_011513990.1:c.8341del	XP_011512292.1:p.Met2781CysfsTer25
XR_925598.1:n.8548del
XM_005248262.3:c.8449del	XP_005248319.2:p.Met2817CysfsTer25
XM_017009177.1:c.8449del	XP_016864666.1:p.Met2817CysfsTer25
XM_017009178.1:c.7354del	XP_016864667.1:p.Met2452CysfsTer25
XM_017009179.2:c.7354del	XP_016864668.1:p.Met2452CysfsTer25
XM_017009180.1:c.8449del	XP_016864669.1:p.Met2817CysfsTer25
XM_017009181.1:c.8449del	XP_016864670.1:p.Met2817CysfsTer25
XM_017009182.1:c.8449del	XP_016864671.1:p.Met2817CysfsTer25
XM_017009183.1:c.8449del	XP_016864672.1:p.Met2817CysfsTer25
XM_017009184.1:c.8449del	XP_016864673.1:p.Met2817CysfsTer25
XM_017009185.1:c.3538del	XP_016864674.1:p.Met1180CysfsTer25
XM_017009186.1:c.3091del	XP_016864675.1:p.Met1031CysfsTer25
XM_017009188.1:c.2428del	XP_016864677.1:p.Met810CysfsTer25
XM_024454388.1:c.7354del	XP_024310156.1:p.Met2452CysfsTer25
XM_024454389.1:c.6943del	XP_024310157.1:p.Met2315CysfsTer25
XR_001742034.1:n.8466del
XR_001742035.1:n.8466del
NM_001369.3:c.8341del MANE Select	NP_001360.1:p.Met2781CysfsTer25