Canonical Allele Identifier: CA2673268304

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770951-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770954_13770956del , CM000667.2:g.13770954_13770956del	GRCh38
NC_000005.9:g.13771063_13771065del , CM000667.1:g.13771063_13771065del	GRCh37
NC_000005.8:g.13824063_13824065del	NCBI36
NG_013081.1:g.178527_178529del
NG_013081.2:g.178527_178529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9400_9402del MANE Select	ENSP00000265104.4:p.Asp3134del
ENST00000681290.1:c.9355_9357del	ENSP00000505288.1:p.Asp3119del
ENST00000265104.4:c.9400_9402del	ENSP00000265104.4:p.Asp3134del
ENST00000504001.3:n.112_114del
NM_001369.2:c.9400_9402del	NP_001360.1:p.Asp3134del
XM_005248262.2:c.9355_9357del	XP_005248319.1:p.Asp3119del
XM_005248262.3:c.9508_9510del	XP_005248319.2:p.Asp3170del
XM_017009177.1:c.9508_9510del	XP_016864666.1:p.Asp3170del
XM_017009178.1:c.8413_8415del	XP_016864667.1:p.Asp2805del
XM_017009179.2:c.8413_8415del	XP_016864668.1:p.Asp2805del
XM_017009180.1:c.9508_9510del	XP_016864669.1:p.Asp3170del
XM_017009181.1:c.9508_9510del	XP_016864670.1:p.Asp3170del
XM_017009182.1:c.9508_9510del	XP_016864671.1:p.Asp3170del
XM_017009183.1:c.9508_9510del	XP_016864672.1:p.Asp3170del
XM_017009185.1:c.4597_4599del	XP_016864674.1:p.Asp1533del
XM_017009186.1:c.4150_4152del	XP_016864675.1:p.Asp1384del
XM_017009188.1:c.3487_3489del	XP_016864677.1:p.Asp1163del
XM_024454388.1:c.8413_8415del	XP_024310156.1:p.Asp2805del
XM_024454389.1:c.8002_8004del	XP_024310157.1:p.Asp2668del
NM_001369.3:c.9400_9402del MANE Select	NP_001360.1:p.Asp3134del