Canonical Allele Identifier: CA2673269831

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769262-TTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769263_13769266del , CM000667.2:g.13769263_13769266del	GRCh38
NC_000005.9:g.13769372_13769375del , CM000667.1:g.13769372_13769375del	GRCh37
NC_000005.8:g.13822372_13822375del	NCBI36
NG_013081.1:g.180215_180218del
NG_013081.2:g.180215_180218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-130_9721-127del MANE Select	ENSP00000265104.4:n.9721-130_9721-127del
ENST00000681290.1:c.9676-130_9676-127del	ENSP00000505288.1:n.9676-130_9676-127del
ENST00000265104.4:c.9721-130_9721-127del	ENSP00000265104.4:n.9721-130_9721-127del
ENST00000504001.3:n.433-130_433-127del
NM_001369.2:c.9721-130_9721-127del	NP_001360.1:n.9721-130_9721-127del
XM_005248262.2:c.9676-130_9676-127del	XP_005248319.1:n.9676-130_9676-127del
XM_005248262.3:c.9829-130_9829-127del	XP_005248319.2:n.9829-130_9829-127del
XM_017009177.1:c.9829-130_9829-127del	XP_016864666.1:n.9829-130_9829-127del
XM_017009178.1:c.8734-130_8734-127del	XP_016864667.1:n.8734-130_8734-127del
XM_017009179.2:c.8734-130_8734-127del	XP_016864668.1:n.8734-130_8734-127del
XM_017009180.1:c.9829-130_9829-127del	XP_016864669.1:n.9829-130_9829-127del
XM_017009181.1:c.9829-130_9829-127del	XP_016864670.1:n.9829-130_9829-127del
XM_017009182.1:c.9829-130_9829-127del	XP_016864671.1:n.9829-130_9829-127del
XM_017009185.1:c.4918-130_4918-127del	XP_016864674.1:n.4918-130_4918-127del
XM_017009186.1:c.4471-130_4471-127del	XP_016864675.1:n.4471-130_4471-127del
XM_017009188.1:c.3808-130_3808-127del	XP_016864677.1:n.3808-130_3808-127del
XM_024454388.1:c.8734-130_8734-127del	XP_024310156.1:n.8734-130_8734-127del
XM_024454389.1:c.8323-130_8323-127del	XP_024310157.1:n.8323-130_8323-127del
NM_001369.3:c.9721-130_9721-127del MANE Select	NP_001360.1:n.9721-130_9721-127del