Canonical Allele Identifier: CA557862279

Gene: DNAH5

Linked Data

• dbSNP Id: rs1561057611
• gnomAD v2: 5-13692090-AT-A
• gnomAD v4: 5-13691981-AT-A
• MyVariant Identifiers: chr5:g.13692091del (hg19) ; chr5:g.13691982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691982del , CM000667.2:g.13691982del	GRCh38
NC_000005.9:g.13692091del , CM000667.1:g.13692091del	GRCh37
NC_000005.8:g.13745091del	NCBI36
NG_013081.1:g.257499del
NG_013081.2:g.257499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1210del
ENST00000265104.5:c.*2del MANE Select	ENSP00000265104.4:n.*2del
ENST00000681290.1:c.*2del	ENSP00000505288.1:n.*2del
ENST00000265104.4:c.*2del	ENSP00000265104.4:n.*2del
NM_001369.2:c.*2del	NP_001360.1:n.*2del
XM_005248262.2:c.*2del	XP_005248319.1:n.*2del
XM_005248262.3:c.*2del	XP_005248319.2:n.*2del
XM_017009177.1:c.*2del	XP_016864666.1:n.*2del
XM_017009178.1:c.*2del	XP_016864667.1:n.*2del
XM_017009179.2:c.*2del	XP_016864668.1:n.*2del
XM_017009185.1:c.*2del	XP_016864674.1:n.*2del
XM_017009186.1:c.*2del	XP_016864675.1:n.*2del
XM_017009188.1:c.*2del	XP_016864677.1:n.*2del
XM_024454388.1:c.*2del	XP_024310156.1:n.*2del
XM_024454389.1:c.*2del	XP_024310157.1:n.*2del
NM_001369.3:c.*2del MANE Select	NP_001360.1:n.*2del