Canonical Allele Identifier: CA113960415

Gene: DNAH5

Linked Data

• dbSNP Id: rs377238975
• gnomAD v2: 5-13792473-CTT-C
• gnomAD v3: 5-13792364-CTT-C
• gnomAD v4: 5-13792364-CTT-C
• MyVariant Identifiers: chr5:g.13792474_13792475del (hg19) ; chr5:g.13792365_13792366del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792365_13792366del , CM000667.2:g.13792365_13792366del	GRCh38
NC_000005.9:g.13792474_13792475del , CM000667.1:g.13792474_13792475del	GRCh37
NC_000005.8:g.13845474_13845475del	NCBI36
NG_013081.1:g.157115_157116del
NG_013081.2:g.157115_157116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8225-149_8225-148del MANE Select	ENSP00000265104.4:n.8225-149_8225-148del
ENST00000681290.1:c.8180-149_8180-148del	ENSP00000505288.1:n.8180-149_8180-148del
ENST00000265104.4:c.8225-149_8225-148del	ENSP00000265104.4:n.8225-149_8225-148del
NM_001369.2:c.8225-149_8225-148del	NP_001360.1:n.8225-149_8225-148del
XM_005248262.2:c.8180-149_8180-148del	XP_005248319.1:n.8180-149_8180-148del
XM_011513990.1:c.8225-149_8225-148del	XP_011512292.1:n.8225-149_8225-148del
XR_925598.1:n.8432-149_8432-148del
XM_005248262.3:c.8333-149_8333-148del	XP_005248319.2:n.8333-149_8333-148del
XM_017009177.1:c.8333-149_8333-148del	XP_016864666.1:n.8333-149_8333-148del
XM_017009178.1:c.7238-149_7238-148del	XP_016864667.1:n.7238-149_7238-148del
XM_017009179.2:c.7238-149_7238-148del	XP_016864668.1:n.7238-149_7238-148del
XM_017009180.1:c.8333-149_8333-148del	XP_016864669.1:n.8333-149_8333-148del
XM_017009181.1:c.8333-149_8333-148del	XP_016864670.1:n.8333-149_8333-148del
XM_017009182.1:c.8333-149_8333-148del	XP_016864671.1:n.8333-149_8333-148del
XM_017009183.1:c.8333-149_8333-148del	XP_016864672.1:n.8333-149_8333-148del
XM_017009184.1:c.8333-149_8333-148del	XP_016864673.1:n.8333-149_8333-148del
XM_017009185.1:c.3422-149_3422-148del	XP_016864674.1:n.3422-149_3422-148del
XM_017009186.1:c.2975-149_2975-148del	XP_016864675.1:n.2975-149_2975-148del
XM_017009188.1:c.2312-149_2312-148del	XP_016864677.1:n.2312-149_2312-148del
XM_024454388.1:c.7238-149_7238-148del	XP_024310156.1:n.7238-149_7238-148del
XM_024454389.1:c.6827-149_6827-148del	XP_024310157.1:n.6827-149_6827-148del
XR_001742034.1:n.8350-149_8350-148del
XR_001742035.1:n.8350-149_8350-148del
NM_001369.3:c.8225-149_8225-148del MANE Select	NP_001360.1:n.8225-149_8225-148del