Canonical Allele Identifier: CA1073407999

Gene: DNAH5

Linked Data

• gnomAD v3: 5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT
• gnomAD v4: 5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769265_13769266insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.13769265_13769266insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.13769374_13769375insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.13769374_13769375insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.13822374_13822375insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_013081.1:g.180233_180234insAAAACAAAAAAAAAAAAAAAAAAAAAAAAA
NG_013081.2:g.180233_180234insAAAACAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

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