Canonical Allele Identifier: CA113919285

Gene: DNAH5

Linked Data

• dbSNP Id: rs568785201
• gnomAD v2: 5-13753729-GA-G
• gnomAD v3: 5-13753620-GA-G
• gnomAD v4: 5-13753620-GA-G
• MyVariant Identifiers: chr5:g.13753730del (hg19) ; chr5:g.13753621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753627del , CM000667.2:g.13753627del	GRCh38
NC_000005.9:g.13753736del , CM000667.1:g.13753736del	GRCh37
NC_000005.8:g.13806736del	NCBI36
NG_013081.1:g.195860del
NG_013081.2:g.195860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10556-72del MANE Select	ENSP00000265104.4:n.10556-72del
ENST00000681290.1:c.10511-72del	ENSP00000505288.1:n.10511-72del
ENST00000265104.4:c.10556-72del	ENSP00000265104.4:n.10556-72del
NM_001369.2:c.10556-72del	NP_001360.1:n.10556-72del
XM_005248262.2:c.10511-72del	XP_005248319.1:n.10511-72del
XM_005248262.3:c.10664-72del	XP_005248319.2:n.10664-72del
XM_017009177.1:c.10664-72del	XP_016864666.1:n.10664-72del
XM_017009178.1:c.9569-72del	XP_016864667.1:n.9569-72del
XM_017009179.2:c.9569-72del	XP_016864668.1:n.9569-72del
XM_017009180.1:c.10664-72del	XP_016864669.1:n.10664-72del
XM_017009181.1:c.10664-72del	XP_016864670.1:n.10664-72del
XM_017009182.1:c.10664-72del	XP_016864671.1:n.10664-72del
XM_017009185.1:c.5753-72del	XP_016864674.1:n.5753-72del
XM_017009186.1:c.5306-72del	XP_016864675.1:n.5306-72del
XM_017009188.1:c.4643-72del	XP_016864677.1:n.4643-72del
XM_024454388.1:c.9569-72del	XP_024310156.1:n.9569-72del
XM_024454389.1:c.9158-72del	XP_024310157.1:n.9158-72del
NM_001369.3:c.10556-72del MANE Select	NP_001360.1:n.10556-72del