Canonical Allele Identifier: CA2673266367

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13701191-CTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701195_13701198del , CM000667.2:g.13701195_13701198del	GRCh38
NC_000005.9:g.13701304_13701307del , CM000667.1:g.13701304_13701307del	GRCh37
NC_000005.8:g.13754304_13754307del	NCBI36
NG_013081.1:g.248286_248289del
NG_013081.2:g.248286_248289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+89_824+92del
ENST00000265104.5:c.13491+89_13491+92del MANE Select	ENSP00000265104.4:n.13491+89_13491+92del
ENST00000681290.1:c.13446+89_13446+92del	ENSP00000505288.1:n.13446+89_13446+92del
ENST00000265104.4:c.13491+89_13491+92del	ENSP00000265104.4:n.13491+89_13491+92del
NM_001369.2:c.13491+89_13491+92del	NP_001360.1:n.13491+89_13491+92del
XM_005248262.2:c.13446+89_13446+92del	XP_005248319.1:n.13446+89_13446+92del
XM_005248262.3:c.13599+89_13599+92del	XP_005248319.2:n.13599+89_13599+92del
XM_017009177.1:c.13179+89_13179+92del	XP_016864666.1:n.13179+89_13179+92del
XM_017009178.1:c.12504+89_12504+92del	XP_016864667.1:n.12504+89_12504+92del
XM_017009179.2:c.12504+89_12504+92del	XP_016864668.1:n.12504+89_12504+92del
XM_017009185.1:c.8688+89_8688+92del	XP_016864674.1:n.8688+89_8688+92del
XM_017009186.1:c.8241+89_8241+92del	XP_016864675.1:n.8241+89_8241+92del
XM_017009188.1:c.7578+89_7578+92del	XP_016864677.1:n.7578+89_7578+92del
XM_024454388.1:c.12504+89_12504+92del	XP_024310156.1:n.12504+89_12504+92del
XM_024454389.1:c.12093+89_12093+92del	XP_024310157.1:n.12093+89_12093+92del
NM_001369.3:c.13491+89_13491+92del MANE Select	NP_001360.1:n.13491+89_13491+92del