Canonical Allele Identifier: CA2765346851

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701106_13701107insCT , CM000667.2:g.13701106_13701107insCT	GRCh38
NC_000005.9:g.13701215_13701216insCT , CM000667.1:g.13701215_13701216insCT	GRCh37
NC_000005.8:g.13754215_13754216insCT	NCBI36
NG_013081.1:g.248374_248375insAG
NG_013081.2:g.248374_248375insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+177_824+178insAG
ENST00000265104.5:c.13491+177_13491+178insAG MANE Select	ENSP00000265104.4:n.13491+177_13491+178insAG
ENST00000681290.1:c.13446+177_13446+178insAG	ENSP00000505288.1:n.13446+177_13446+178insAG
ENST00000265104.4:c.13491+177_13491+178insAG	ENSP00000265104.4:n.13491+177_13491+178insAG
NM_001369.2:c.13491+177_13491+178insAG	NP_001360.1:n.13491+177_13491+178insAG
XM_005248262.2:c.13446+177_13446+178insAG	XP_005248319.1:n.13446+177_13446+178insAG
XM_005248262.3:c.13599+177_13599+178insAG	XP_005248319.2:n.13599+177_13599+178insAG
XM_017009177.1:c.13179+177_13179+178insAG	XP_016864666.1:n.13179+177_13179+178insAG
XM_017009178.1:c.12504+177_12504+178insAG	XP_016864667.1:n.12504+177_12504+178insAG
XM_017009179.2:c.12504+177_12504+178insAG	XP_016864668.1:n.12504+177_12504+178insAG
XM_017009185.1:c.8688+177_8688+178insAG	XP_016864674.1:n.8688+177_8688+178insAG
XM_017009186.1:c.8241+177_8241+178insAG	XP_016864675.1:n.8241+177_8241+178insAG
XM_017009188.1:c.7578+177_7578+178insAG	XP_016864677.1:n.7578+177_7578+178insAG
XM_024454388.1:c.12504+177_12504+178insAG	XP_024310156.1:n.12504+177_12504+178insAG
XM_024454389.1:c.12093+177_12093+178insAG	XP_024310157.1:n.12093+177_12093+178insAG
NM_001369.3:c.13491+177_13491+178insAG MANE Select	NP_001360.1:n.13491+177_13491+178insAG