Canonical Allele Identifier: CA3201955

Gene: DNAH5

Linked Data

• dbSNP Id: rs779414091
• ExAC: 5:13736057 CAAGGT / C
• MyVariant Identifiers: chr5:g.13736058_13736062del (hg19) ; chr5:g.13735949_13735953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735949_13735953del , CM000667.2:g.13735949_13735953del	GRCh38
NC_000005.9:g.13736058_13736062del , CM000667.1:g.13736058_13736062del	GRCh37
NC_000005.8:g.13789058_13789062del	NCBI36
NG_013081.1:g.213528_213532del
NG_013081.2:g.213528_213532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11456-21_11456-17del MANE Select	ENSP00000265104.4:n.11456-21_11456-17del
ENST00000681290.1:c.11411-21_11411-17del	ENSP00000505288.1:n.11411-21_11411-17del
ENST00000265104.4:c.11456-21_11456-17del	ENSP00000265104.4:n.11456-21_11456-17del
NM_001369.2:c.11456-21_11456-17del	NP_001360.1:n.11456-21_11456-17del
XM_005248262.2:c.11411-21_11411-17del	XP_005248319.1:n.11411-21_11411-17del
XM_005248262.3:c.11564-21_11564-17del	XP_005248319.2:n.11564-21_11564-17del
XM_017009177.1:c.11564-21_11564-17del	XP_016864666.1:n.11564-21_11564-17del
XM_017009178.1:c.10469-21_10469-17del	XP_016864667.1:n.10469-21_10469-17del
XM_017009179.2:c.10469-21_10469-17del	XP_016864668.1:n.10469-21_10469-17del
XM_017009180.1:c.11564-21_11564-17del	XP_016864669.1:n.11564-21_11564-17del
XM_017009181.1:c.11564-21_11564-17del	XP_016864670.1:n.11564-21_11564-17del
XM_017009182.1:c.11320-21_11320-17del	XP_016864671.1:n.11320-21_11320-17del
XM_017009185.1:c.6653-21_6653-17del	XP_016864674.1:n.6653-21_6653-17del
XM_017009186.1:c.6206-21_6206-17del	XP_016864675.1:n.6206-21_6206-17del
XM_017009188.1:c.5543-21_5543-17del	XP_016864677.1:n.5543-21_5543-17del
XM_024454388.1:c.10469-21_10469-17del	XP_024310156.1:n.10469-21_10469-17del
XM_024454389.1:c.10058-21_10058-17del	XP_024310157.1:n.10058-21_10058-17del
NM_001369.3:c.11456-21_11456-17del MANE Select	NP_001360.1:n.11456-21_11456-17del