Canonical Allele Identifier: CA915093609

Gene: DNAH5

Linked Data

• gnomAD v2: 5-13769353-G-GTTTT
• gnomAD v3: 5-13769244-G-GTTTT
• gnomAD v4: 5-13769244-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769246_13769247insTTTT , CM000667.2:g.13769246_13769247insTTTT	GRCh38
NC_000005.9:g.13769355_13769356insTTTT , CM000667.1:g.13769355_13769356insTTTT	GRCh37
NC_000005.8:g.13822355_13822356insTTTT	NCBI36
NG_013081.1:g.180236_180237insAAAA
NG_013081.2:g.180236_180237insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-109_9721-108insAAAA MANE Select	ENSP00000265104.4:n.9721-109_9721-108insAAAA
ENST00000681290.1:c.9676-109_9676-108insAAAA	ENSP00000505288.1:n.9676-109_9676-108insAAAA
ENST00000265104.4:c.9721-109_9721-108insAAAA	ENSP00000265104.4:n.9721-109_9721-108insAAAA
ENST00000504001.3:n.433-109_433-108insAAAA
NM_001369.2:c.9721-109_9721-108insAAAA	NP_001360.1:n.9721-109_9721-108insAAAA
XM_005248262.2:c.9676-109_9676-108insAAAA	XP_005248319.1:n.9676-109_9676-108insAAAA
XM_005248262.3:c.9829-109_9829-108insAAAA	XP_005248319.2:n.9829-109_9829-108insAAAA
XM_017009177.1:c.9829-109_9829-108insAAAA	XP_016864666.1:n.9829-109_9829-108insAAAA
XM_017009178.1:c.8734-109_8734-108insAAAA	XP_016864667.1:n.8734-109_8734-108insAAAA
XM_017009179.2:c.8734-109_8734-108insAAAA	XP_016864668.1:n.8734-109_8734-108insAAAA
XM_017009180.1:c.9829-109_9829-108insAAAA	XP_016864669.1:n.9829-109_9829-108insAAAA
XM_017009181.1:c.9829-109_9829-108insAAAA	XP_016864670.1:n.9829-109_9829-108insAAAA
XM_017009182.1:c.9829-109_9829-108insAAAA	XP_016864671.1:n.9829-109_9829-108insAAAA
XM_017009185.1:c.4918-109_4918-108insAAAA	XP_016864674.1:n.4918-109_4918-108insAAAA
XM_017009186.1:c.4471-109_4471-108insAAAA	XP_016864675.1:n.4471-109_4471-108insAAAA
XM_017009188.1:c.3808-109_3808-108insAAAA	XP_016864677.1:n.3808-109_3808-108insAAAA
XM_024454388.1:c.8734-109_8734-108insAAAA	XP_024310156.1:n.8734-109_8734-108insAAAA
XM_024454389.1:c.8323-109_8323-108insAAAA	XP_024310157.1:n.8323-109_8323-108insAAAA
NM_001369.3:c.9721-109_9721-108insAAAA MANE Select	NP_001360.1:n.9721-109_9721-108insAAAA