Canonical Allele Identifier: CA557876405

Gene: DNAH5

Linked Data

• dbSNP Id: rs1441991712
• gnomAD v2: 5-13701199-GA-G
• gnomAD v3: 5-13701090-GA-G
• gnomAD v4: 5-13701090-GA-G
• MyVariant Identifiers: chr5:g.13701200del (hg19) ; chr5:g.13701091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701093del , CM000667.2:g.13701093del	GRCh38
NC_000005.9:g.13701202del , CM000667.1:g.13701202del	GRCh37
NC_000005.8:g.13754202del	NCBI36
NG_013081.1:g.248390del
NG_013081.2:g.248390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+193del
ENST00000265104.5:c.13491+193del MANE Select	ENSP00000265104.4:n.13491+193del
ENST00000681290.1:c.13446+193del	ENSP00000505288.1:n.13446+193del
ENST00000265104.4:c.13491+193del	ENSP00000265104.4:n.13491+193del
NM_001369.2:c.13491+193del	NP_001360.1:n.13491+193del
XM_005248262.2:c.13446+193del	XP_005248319.1:n.13446+193del
XM_005248262.3:c.13599+193del	XP_005248319.2:n.13599+193del
XM_017009177.1:c.13179+193del	XP_016864666.1:n.13179+193del
XM_017009178.1:c.12504+193del	XP_016864667.1:n.12504+193del
XM_017009179.2:c.12504+193del	XP_016864668.1:n.12504+193del
XM_017009185.1:c.8688+193del	XP_016864674.1:n.8688+193del
XM_017009186.1:c.8241+193del	XP_016864675.1:n.8241+193del
XM_017009188.1:c.7578+193del	XP_016864677.1:n.7578+193del
XM_024454388.1:c.12504+193del	XP_024310156.1:n.12504+193del
XM_024454389.1:c.12093+193del	XP_024310157.1:n.12093+193del
NM_001369.3:c.13491+193del MANE Select	NP_001360.1:n.13491+193del