Canonical Allele Identifier: CA1528458667

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830446_13830451delinsTCCACA , CM000667.2:g.13830446_13830451delinsTCCACA	GRCh38
NC_000005.9:g.13830555_13830560delinsTCCACA , CM000667.1:g.13830555_13830560delinsTCCACA	GRCh37
NC_000005.8:g.13883555_13883560delinsTCCACA	NCBI36
NG_013081.1:g.119030_119035delinsTGTGGA
NG_013081.2:g.119030_119035delinsTGTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.992+146_992+151delinsTGTGGA
ENST00000265104.5:c.6061+146_6061+151delinsTGTGGA MANE Select	ENSP00000265104.4:n.6061+146_6061+151deli...
ENST00000681290.1:c.6016+146_6016+151delinsTGTGGA	ENSP00000505288.1:n.6016+146_6016+151deli...
ENST00000265104.4:c.6061+146_6061+151delinsTGTGGA	ENSP00000265104.4:n.6061+146_6061+151deli...
NM_001369.2:c.6061+146_6061+151delinsTGTGGA	NP_001360.1:n.6061+146_6061+151delinsTGTG...
XM_005248262.2:c.6016+146_6016+151delinsTGTGGA	XP_005248319.1:n.6016+146_6016+151delinsT...
XM_011513990.1:c.6061+146_6061+151delinsTGTGGA	XP_011512292.1:n.6061+146_6061+151delinsT...
XR_925598.1:n.6268+146_6268+151delinsTGTGGA
XM_005248262.3:c.6169+146_6169+151delinsTGTGGA	XP_005248319.2:n.6169+146_6169+151delinsT...
XM_017009177.1:c.6169+146_6169+151delinsTGTGGA	XP_016864666.1:n.6169+146_6169+151delinsT...
XM_017009178.1:c.5074+146_5074+151delinsTGTGGA	XP_016864667.1:n.5074+146_5074+151delinsT...
XM_017009179.2:c.5074+146_5074+151delinsTGTGGA	XP_016864668.1:n.5074+146_5074+151delinsT...
XM_017009180.1:c.6169+146_6169+151delinsTGTGGA	XP_016864669.1:n.6169+146_6169+151delinsT...
XM_017009181.1:c.6169+146_6169+151delinsTGTGGA	XP_016864670.1:n.6169+146_6169+151delinsT...
XM_017009182.1:c.6169+146_6169+151delinsTGTGGA	XP_016864671.1:n.6169+146_6169+151delinsT...
XM_017009183.1:c.6169+146_6169+151delinsTGTGGA	XP_016864672.1:n.6169+146_6169+151delinsT...
XM_017009184.1:c.6169+146_6169+151delinsTGTGGA	XP_016864673.1:n.6169+146_6169+151delinsT...
XM_017009185.1:c.1258+146_1258+151delinsTGTGGA	XP_016864674.1:n.1258+146_1258+151delinsT...
XM_017009186.1:c.811+146_811+151delinsTGTGGA	XP_016864675.1:n.811+146_811+151delinsTGT...
XM_017009187.1:c.6169+146_6169+151delinsTGTGGA	XP_016864676.1:n.6169+146_6169+151delinsT...
XM_017009188.1:c.148+146_148+151delinsTGTGGA	XP_016864677.1:n.148+146_148+151delinsTGT...
XM_024454388.1:c.5074+146_5074+151delinsTGTGGA	XP_024310156.1:n.5074+146_5074+151delinsT...
XM_024454389.1:c.4663+146_4663+151delinsTGTGGA	XP_024310157.1:n.4663+146_4663+151delinsT...
XR_001742034.1:n.6186+146_6186+151delinsTGTGGA
XR_001742035.1:n.6186+146_6186+151delinsTGTGGA
NM_001369.3:c.6061+146_6061+151delinsTGTGGA MANE Select	NP_001360.1:n.6061+146_6061+151delinsTGTG...