Canonical Allele Identifier: CA2673266639

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708215-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708218del , CM000667.2:g.13708218del	GRCh38
NC_000005.9:g.13708327del , CM000667.1:g.13708327del	GRCh37
NC_000005.8:g.13761327del	NCBI36
NG_013081.1:g.241265del
NG_013081.2:g.241265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.578del
ENST00000265104.5:c.13245del MANE Select	ENSP00000265104.4:p.Lys4415AsnfsTer10
ENST00000681290.1:c.13200del	ENSP00000505288.1:p.Lys4400AsnfsTer10
ENST00000265104.4:c.13245del	ENSP00000265104.4:p.Lys4415AsnfsTer10
NM_001369.2:c.13245del	NP_001360.1:p.Lys4415AsnfsTer10
XM_005248262.2:c.13200del	XP_005248319.1:p.Lys4400AsnfsTer10
XM_005248262.3:c.13353del	XP_005248319.2:p.Lys4451AsnfsTer10
XM_017009177.1:c.12933del	XP_016864666.1:p.Lys4311AsnfsTer10
XM_017009178.1:c.12258del	XP_016864667.1:p.Lys4086AsnfsTer10
XM_017009179.2:c.12258del	XP_016864668.1:p.Lys4086AsnfsTer10
XM_017009185.1:c.8442del	XP_016864674.1:p.Lys2814AsnfsTer10
XM_017009186.1:c.7995del	XP_016864675.1:p.Lys2665AsnfsTer10
XM_017009188.1:c.7332del	XP_016864677.1:p.Lys2444AsnfsTer10
XM_024454388.1:c.12258del	XP_024310156.1:p.Lys4086AsnfsTer10
XM_024454389.1:c.11847del	XP_024310157.1:p.Lys3949AsnfsTer10
NM_001369.3:c.13245del MANE Select	NP_001360.1:p.Lys4415AsnfsTer10