Canonical Allele Identifier: CA1073407926

Gene: DNAH5

Linked Data

• dbSNP Id: rs36092508
• gnomAD v3: 5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769265_13769266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.13769265_13769266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.13769374_13769375insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.13769374_13769375insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.13822374_13822375insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_013081.1:g.180233_180234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_013081.2:g.180233_180234insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAA...
ENST00000681290.1:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000505288.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAA...
ENST00000265104.4:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAA...
ENST00000504001.3:n.433-112_433-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_001369.2:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005248262.2:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005248319.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005248262.3:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005248319.2:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009177.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864666.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009178.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864667.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009179.2:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864668.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009180.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864669.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009181.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864670.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009182.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864671.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009185.1:c.4918-112_4918-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864674.1:n.4918-112_4918-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009186.1:c.4471-112_4471-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864675.1:n.4471-112_4471-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017009188.1:c.3808-112_3808-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016864677.1:n.3808-112_3808-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_024454388.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_024310156.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_024454389.1:c.8323-112_8323-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_024310157.1:n.8323-112_8323-111insAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001369.3:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA...