Canonical Allele Identifier: CA1073393148

Gene: DNAH5

Linked Data

• dbSNP Id: rs1742064127
• gnomAD v3: 5-13701216-C-CAT
• gnomAD v4: 5-13701216-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701216_13701217insAT , CM000667.2:g.13701216_13701217insAT	GRCh38
NC_000005.9:g.13701325_13701326insAT , CM000667.1:g.13701325_13701326insAT	GRCh37
NC_000005.8:g.13754325_13754326insAT	NCBI36
NG_013081.1:g.248264_248265insAT
NG_013081.2:g.248264_248265insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+67_824+68insAT
ENST00000265104.5:c.13491+67_13491+68insAT MANE Select	ENSP00000265104.4:n.13491+67_13491+68insAT
ENST00000681290.1:c.13446+67_13446+68insAT	ENSP00000505288.1:n.13446+67_13446+68insAT
ENST00000265104.4:c.13491+67_13491+68insAT	ENSP00000265104.4:n.13491+67_13491+68insAT
NM_001369.2:c.13491+67_13491+68insAT	NP_001360.1:n.13491+67_13491+68insAT
XM_005248262.2:c.13446+67_13446+68insAT	XP_005248319.1:n.13446+67_13446+68insAT
XM_005248262.3:c.13599+67_13599+68insAT	XP_005248319.2:n.13599+67_13599+68insAT
XM_017009177.1:c.13179+67_13179+68insAT	XP_016864666.1:n.13179+67_13179+68insAT
XM_017009178.1:c.12504+67_12504+68insAT	XP_016864667.1:n.12504+67_12504+68insAT
XM_017009179.2:c.12504+67_12504+68insAT	XP_016864668.1:n.12504+67_12504+68insAT
XM_017009185.1:c.8688+67_8688+68insAT	XP_016864674.1:n.8688+67_8688+68insAT
XM_017009186.1:c.8241+67_8241+68insAT	XP_016864675.1:n.8241+67_8241+68insAT
XM_017009188.1:c.7578+67_7578+68insAT	XP_016864677.1:n.7578+67_7578+68insAT
XM_024454388.1:c.12504+67_12504+68insAT	XP_024310156.1:n.12504+67_12504+68insAT
XM_024454389.1:c.12093+67_12093+68insAT	XP_024310157.1:n.12093+67_12093+68insAT
NM_001369.3:c.13491+67_13491+68insAT MANE Select	NP_001360.1:n.13491+67_13491+68insAT