Canonical Allele Identifier: CA3202403

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2797610
• ClinVar RCV Id: RCV003647421
• dbSNP Id: rs758724681
• ExAC: 5:13769058 CAT / C
• gnomAD v2: 5-13769058-CAT-C
• gnomAD v4: 5-13768949-CAT-C
• MyVariant Identifiers: chr5:g.13769059_13769060del (hg19) ; chr5:g.13768950_13768951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768951_13768952del , CM000667.2:g.13768951_13768952del	GRCh38
NC_000005.9:g.13769060_13769061del , CM000667.1:g.13769060_13769061del	GRCh37
NC_000005.8:g.13822060_13822061del	NCBI36
NG_013081.1:g.180530_180531del
NG_013081.2:g.180530_180531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9897+9_9897+10del MANE Select	ENSP00000265104.4:n.9897+9_9897+10del
ENST00000681290.1:c.9852+9_9852+10del	ENSP00000505288.1:n.9852+9_9852+10del
ENST00000265104.4:c.9897+9_9897+10del	ENSP00000265104.4:n.9897+9_9897+10del
ENST00000504001.3:n.609+9_609+10del
NM_001369.2:c.9897+9_9897+10del	NP_001360.1:n.9897+9_9897+10del
XM_005248262.2:c.9852+9_9852+10del	XP_005248319.1:n.9852+9_9852+10del
XM_005248262.3:c.10005+9_10005+10del	XP_005248319.2:n.10005+9_10005+10del
XM_017009177.1:c.10005+9_10005+10del	XP_016864666.1:n.10005+9_10005+10del
XM_017009178.1:c.8910+9_8910+10del	XP_016864667.1:n.8910+9_8910+10del
XM_017009179.2:c.8910+9_8910+10del	XP_016864668.1:n.8910+9_8910+10del
XM_017009180.1:c.10005+9_10005+10del	XP_016864669.1:n.10005+9_10005+10del
XM_017009181.1:c.10005+9_10005+10del	XP_016864670.1:n.10005+9_10005+10del
XM_017009182.1:c.10005+9_10005+10del	XP_016864671.1:n.10005+9_10005+10del
XM_017009185.1:c.5094+9_5094+10del	XP_016864674.1:n.5094+9_5094+10del
XM_017009186.1:c.4647+9_4647+10del	XP_016864675.1:n.4647+9_4647+10del
XM_017009188.1:c.3984+9_3984+10del	XP_016864677.1:n.3984+9_3984+10del
XM_024454388.1:c.8910+9_8910+10del	XP_024310156.1:n.8910+9_8910+10del
XM_024454389.1:c.8499+9_8499+10del	XP_024310157.1:n.8499+9_8499+10del
NM_001369.3:c.9897+9_9897+10del MANE Select	NP_001360.1:n.9897+9_9897+10del