Canonical Allele Identifier: CA3202524

Gene: DNAH5

Linked Data

• dbSNP Id: rs773922859
• ExAC: 5:13770930 T / TA
• gnomAD v2: 5-13770930-T-TA
• MyVariant Identifiers: chr5:g.13770930_13770931insA (hg19) ; chr5:g.13770821_13770822insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770822dup , CM000667.2:g.13770822dup	GRCh38
NC_000005.9:g.13770931dup , CM000667.1:g.13770931dup	GRCh37
NC_000005.8:g.13823931dup	NCBI36
NG_013081.1:g.178659dup
NG_013081.2:g.178659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9532dup MANE Select	ENSP00000265104.4:p.Tyr3178LeufsTer9
ENST00000681290.1:c.9487dup	ENSP00000505288.1:p.Tyr3163LeufsTer9
ENST00000265104.4:c.9532dup	ENSP00000265104.4:p.Tyr3178LeufsTer9
ENST00000504001.3:n.244dup
NM_001369.2:c.9532dup	NP_001360.1:p.Tyr3178LeufsTer9
XM_005248262.2:c.9487dup	XP_005248319.1:p.Tyr3163LeufsTer9
XM_005248262.3:c.9640dup	XP_005248319.2:p.Tyr3214LeufsTer9
XM_017009177.1:c.9640dup	XP_016864666.1:p.Tyr3214LeufsTer9
XM_017009178.1:c.8545dup	XP_016864667.1:p.Tyr2849LeufsTer9
XM_017009179.2:c.8545dup	XP_016864668.1:p.Tyr2849LeufsTer9
XM_017009180.1:c.9640dup	XP_016864669.1:p.Tyr3214LeufsTer9
XM_017009181.1:c.9640dup	XP_016864670.1:p.Tyr3214LeufsTer9
XM_017009182.1:c.9640dup	XP_016864671.1:p.Tyr3214LeufsTer9
XM_017009183.1:c.9640dup	XP_016864672.1:p.Tyr3214LeufsTer9
XM_017009185.1:c.4729dup	XP_016864674.1:p.Tyr1577LeufsTer9
XM_017009186.1:c.4282dup	XP_016864675.1:p.Tyr1428LeufsTer9
XM_017009188.1:c.3619dup	XP_016864677.1:p.Tyr1207LeufsTer9
XM_024454388.1:c.8545dup	XP_024310156.1:p.Tyr2849LeufsTer9
XM_024454389.1:c.8134dup	XP_024310157.1:p.Tyr2712LeufsTer9
NM_001369.3:c.9532dup MANE Select	NP_001360.1:p.Tyr3178LeufsTer9