Canonical Allele Identifier: CA3202151

Gene: DNAH5

Linked Data

• dbSNP Id: rs759025122
• ExAC: 5:13753500 T / TAGGAGC
• gnomAD v2: 5-13753500-T-TAGGAGC
• gnomAD v3: 5-13753391-T-TAGGAGC
• gnomAD v4: 5-13753391-T-TAGGAGC
• MyVariant Identifiers: chr5:g.13753500_13753501insAGGAGC (hg19) ; chr5:g.13753391_13753392insAGGAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753393_13753398dup , CM000667.2:g.13753393_13753398dup	GRCh38
NC_000005.9:g.13753502_13753507dup , CM000667.1:g.13753502_13753507dup	GRCh37
NC_000005.8:g.13806502_13806507dup	NCBI36
NG_013081.1:g.196084_196089dup
NG_013081.2:g.196084_196089dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10708_10713dup MANE Select	ENSP00000265104.4:p.Pro3571_Thr3572insAlaPro
ENST00000681290.1:c.10663_10668dup	ENSP00000505288.1:p.Pro3556_Thr3557insAlaPro
ENST00000265104.4:c.10708_10713dup	ENSP00000265104.4:p.Pro3571_Thr3572insAlaPro
NM_001369.2:c.10708_10713dup	NP_001360.1:p.Pro3571_Thr3572insAlaPro
XM_005248262.2:c.10663_10668dup	XP_005248319.1:p.Pro3556_Thr3557insAlaPro
XM_005248262.3:c.10816_10821dup	XP_005248319.2:p.Pro3607_Thr3608insAlaPro
XM_017009177.1:c.10816_10821dup	XP_016864666.1:p.Pro3607_Thr3608insAlaPro
XM_017009178.1:c.9721_9726dup	XP_016864667.1:p.Pro3242_Thr3243insAlaPro
XM_017009179.2:c.9721_9726dup	XP_016864668.1:p.Pro3242_Thr3243insAlaPro
XM_017009180.1:c.10816_10821dup	XP_016864669.1:p.Pro3607_Thr3608insAlaPro
XM_017009181.1:c.10816_10821dup	XP_016864670.1:p.Pro3607_Thr3608insAlaPro
XM_017009182.1:c.10816_10821dup	XP_016864671.1:p.Pro3607_Thr3608insAlaPro
XM_017009185.1:c.5905_5910dup	XP_016864674.1:p.Pro1970_Thr1971insAlaPro
XM_017009186.1:c.5458_5463dup	XP_016864675.1:p.Pro1821_Thr1822insAlaPro
XM_017009188.1:c.4795_4800dup	XP_016864677.1:p.Pro1600_Thr1601insAlaPro
XM_024454388.1:c.9721_9726dup	XP_024310156.1:p.Pro3242_Thr3243insAlaPro
XM_024454389.1:c.9310_9315dup	XP_024310157.1:p.Pro3105_Thr3106insAlaPro
NM_001369.3:c.10708_10713dup MANE Select	NP_001360.1:p.Pro3571_Thr3572insAlaPro