Canonical Allele Identifier: CA2842270544

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752242_13752243insT , CM000667.2:g.13752242_13752243insT	GRCh38
NC_000005.9:g.13752351_13752352insT , CM000667.1:g.13752351_13752352insT	GRCh37
NC_000005.8:g.13805351_13805352insT	NCBI36
NG_013081.1:g.197238_197239insA
NG_013081.2:g.197238_197239insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10919_10920insA MANE Select	ENSP00000265104.4:p.Ser3640ArgfsTer11
ENST00000681290.1:c.10874_10875insA	ENSP00000505288.1:p.Ser3625ArgfsTer11
ENST00000265104.4:c.10919_10920insA	ENSP00000265104.4:p.Ser3640ArgfsTer11
NM_001369.2:c.10919_10920insA	NP_001360.1:p.Ser3640ArgfsTer11
XM_005248262.2:c.10874_10875insA	XP_005248319.1:p.Ser3625ArgfsTer11
XM_005248262.3:c.11027_11028insA	XP_005248319.2:p.Ser3676ArgfsTer11
XM_017009177.1:c.11027_11028insA	XP_016864666.1:p.Ser3676ArgfsTer11
XM_017009178.1:c.9932_9933insA	XP_016864667.1:p.Ser3311ArgfsTer11
XM_017009179.2:c.9932_9933insA	XP_016864668.1:p.Ser3311ArgfsTer11
XM_017009180.1:c.11027_11028insA	XP_016864669.1:p.Ser3676ArgfsTer11
XM_017009181.1:c.11027_11028insA	XP_016864670.1:p.Ser3676ArgfsTer11
XM_017009182.1:c.11027_11028insA	XP_016864671.1:p.Ser3676ArgfsTer11
XM_017009185.1:c.6116_6117insA	XP_016864674.1:p.Ser2039ArgfsTer11
XM_017009186.1:c.5669_5670insA	XP_016864675.1:p.Ser1890ArgfsTer11
XM_017009188.1:c.5006_5007insA	XP_016864677.1:p.Ser1669ArgfsTer11
XM_024454388.1:c.9932_9933insA	XP_024310156.1:p.Ser3311ArgfsTer11
XM_024454389.1:c.9521_9522insA	XP_024310157.1:p.Ser3174ArgfsTer11
NM_001369.3:c.10919_10920insA MANE Select	NP_001360.1:p.Ser3640ArgfsTer11