Canonical Allele Identifier: CA1528423507

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750535760

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753435_13753436dup , CM000667.2:g.13753435_13753436dup	GRCh38
NC_000005.9:g.13753544_13753545dup , CM000667.1:g.13753544_13753545dup	GRCh37
NC_000005.8:g.13806544_13806545dup	NCBI36
NG_013081.1:g.196046_196047dup
NG_013081.2:g.196046_196047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10670_10671dup MANE Select	ENSP00000265104.4:p.Gly3558LeufsTer5
ENST00000681290.1:c.10625_10626dup	ENSP00000505288.1:p.Gly3543LeufsTer5
ENST00000265104.4:c.10670_10671dup	ENSP00000265104.4:p.Gly3558LeufsTer5
NM_001369.2:c.10670_10671dup	NP_001360.1:p.Gly3558LeufsTer5
XM_005248262.2:c.10625_10626dup	XP_005248319.1:p.Gly3543LeufsTer5
XM_005248262.3:c.10778_10779dup	XP_005248319.2:p.Gly3594LeufsTer5
XM_017009177.1:c.10778_10779dup	XP_016864666.1:p.Gly3594LeufsTer5
XM_017009178.1:c.9683_9684dup	XP_016864667.1:p.Gly3229LeufsTer5
XM_017009179.2:c.9683_9684dup	XP_016864668.1:p.Gly3229LeufsTer5
XM_017009180.1:c.10778_10779dup	XP_016864669.1:p.Gly3594LeufsTer5
XM_017009181.1:c.10778_10779dup	XP_016864670.1:p.Gly3594LeufsTer5
XM_017009182.1:c.10778_10779dup	XP_016864671.1:p.Gly3594LeufsTer5
XM_017009185.1:c.5867_5868dup	XP_016864674.1:p.Gly1957LeufsTer5
XM_017009186.1:c.5420_5421dup	XP_016864675.1:p.Gly1808LeufsTer5
XM_017009188.1:c.4757_4758dup	XP_016864677.1:p.Gly1587LeufsTer5
XM_024454388.1:c.9683_9684dup	XP_024310156.1:p.Gly3229LeufsTer5
XM_024454389.1:c.9272_9273dup	XP_024310157.1:p.Gly3092LeufsTer5
NM_001369.3:c.10670_10671dup MANE Select	NP_001360.1:p.Gly3558LeufsTer5