Canonical Allele Identifier: CA557867394

Gene: DNAH5

Linked Data

• dbSNP Id: rs1356607534
• gnomAD v2: 5-13753975-CCTT-C
• gnomAD v3: 5-13753866-CCTT-C
• gnomAD v4: 5-13753866-CCTT-C
• MyVariant Identifiers: chr5:g.13753976_13753978del (hg19) ; chr5:g.13753867_13753869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753868_13753870del , CM000667.2:g.13753868_13753870del	GRCh38
NC_000005.9:g.13753977_13753979del , CM000667.1:g.13753977_13753979del	GRCh37
NC_000005.8:g.13806977_13806979del	NCBI36
NG_013081.1:g.195612_195614del
NG_013081.2:g.195612_195614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10556-320_10556-318del MANE Select	ENSP00000265104.4:n.10556-320_10556-318del
ENST00000681290.1:c.10511-320_10511-318del	ENSP00000505288.1:n.10511-320_10511-318del
ENST00000265104.4:c.10556-320_10556-318del	ENSP00000265104.4:n.10556-320_10556-318del
NM_001369.2:c.10556-320_10556-318del	NP_001360.1:n.10556-320_10556-318del
XM_005248262.2:c.10511-320_10511-318del	XP_005248319.1:n.10511-320_10511-318del
XM_005248262.3:c.10664-320_10664-318del	XP_005248319.2:n.10664-320_10664-318del
XM_017009177.1:c.10664-320_10664-318del	XP_016864666.1:n.10664-320_10664-318del
XM_017009178.1:c.9569-320_9569-318del	XP_016864667.1:n.9569-320_9569-318del
XM_017009179.2:c.9569-320_9569-318del	XP_016864668.1:n.9569-320_9569-318del
XM_017009180.1:c.10664-320_10664-318del	XP_016864669.1:n.10664-320_10664-318del
XM_017009181.1:c.10664-320_10664-318del	XP_016864670.1:n.10664-320_10664-318del
XM_017009182.1:c.10664-320_10664-318del	XP_016864671.1:n.10664-320_10664-318del
XM_017009185.1:c.5753-320_5753-318del	XP_016864674.1:n.5753-320_5753-318del
XM_017009186.1:c.5306-320_5306-318del	XP_016864675.1:n.5306-320_5306-318del
XM_017009188.1:c.4643-320_4643-318del	XP_016864677.1:n.4643-320_4643-318del
XM_024454388.1:c.9569-320_9569-318del	XP_024310156.1:n.9569-320_9569-318del
XM_024454389.1:c.9158-320_9158-318del	XP_024310157.1:n.9158-320_9158-318del
NM_001369.3:c.10556-320_10556-318del MANE Select	NP_001360.1:n.10556-320_10556-318del