Canonical Allele Identifier: CA804510560

Gene: DNAH5

Linked Data

• dbSNP Id: rs1425144636
• MyVariant Identifiers: chr5:g.13830532_13830553del (hg19) ; chr5:g.13830423_13830444del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830423_13830444del , CM000667.2:g.13830423_13830444del	GRCh38
NC_000005.9:g.13830532_13830553del , CM000667.1:g.13830532_13830553del	GRCh37
NC_000005.8:g.13883532_13883553del	NCBI36
NG_013081.1:g.119037_119058del
NG_013081.2:g.119037_119058del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.992+153_992+174del
ENST00000265104.5:c.6061+153_6061+174del MANE Select	ENSP00000265104.4:n.6061+153_6061+174del
ENST00000681290.1:c.6016+153_6016+174del	ENSP00000505288.1:n.6016+153_6016+174del
ENST00000265104.4:c.6061+153_6061+174del	ENSP00000265104.4:n.6061+153_6061+174del
NM_001369.2:c.6061+153_6061+174del	NP_001360.1:n.6061+153_6061+174del
XM_005248262.2:c.6016+153_6016+174del	XP_005248319.1:n.6016+153_6016+174del
XM_011513990.1:c.6061+153_6061+174del	XP_011512292.1:n.6061+153_6061+174del
XR_925598.1:n.6268+153_6268+174del
XM_005248262.3:c.6169+153_6169+174del	XP_005248319.2:n.6169+153_6169+174del
XM_017009177.1:c.6169+153_6169+174del	XP_016864666.1:n.6169+153_6169+174del
XM_017009178.1:c.5074+153_5074+174del	XP_016864667.1:n.5074+153_5074+174del
XM_017009179.2:c.5074+153_5074+174del	XP_016864668.1:n.5074+153_5074+174del
XM_017009180.1:c.6169+153_6169+174del	XP_016864669.1:n.6169+153_6169+174del
XM_017009181.1:c.6169+153_6169+174del	XP_016864670.1:n.6169+153_6169+174del
XM_017009182.1:c.6169+153_6169+174del	XP_016864671.1:n.6169+153_6169+174del
XM_017009183.1:c.6169+153_6169+174del	XP_016864672.1:n.6169+153_6169+174del
XM_017009184.1:c.6169+153_6169+174del	XP_016864673.1:n.6169+153_6169+174del
XM_017009185.1:c.1258+153_1258+174del	XP_016864674.1:n.1258+153_1258+174del
XM_017009186.1:c.811+153_811+174del	XP_016864675.1:n.811+153_811+174del
XM_017009187.1:c.6169+153_6169+174del	XP_016864676.1:n.6169+153_6169+174del
XM_017009188.1:c.148+153_148+174del	XP_016864677.1:n.148+153_148+174del
XM_024454388.1:c.5074+153_5074+174del	XP_024310156.1:n.5074+153_5074+174del
XM_024454389.1:c.4663+153_4663+174del	XP_024310157.1:n.4663+153_4663+174del
XR_001742034.1:n.6186+153_6186+174del
XR_001742035.1:n.6186+153_6186+174del
NM_001369.3:c.6061+153_6061+174del MANE Select	NP_001360.1:n.6061+153_6061+174del