Canonical Allele Identifier: CA2573052995

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1325002
• ClinVar RCV Id: RCV001783679
• dbSNP Id: rs2130653843

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511911_144511915del , CM000670.2:g.144511911_144511915del	GRCh38
NC_000008.10:g.145737294_145737298del , CM000670.1:g.145737294_145737298del	GRCh37
NC_000008.9:g.145708102_145708106del	NCBI36
NG_016430.1:g.10912_10916del
NG_016430.2:g.10912_10916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3389_3393del MANE Select	ENSP00000482313.2:p.Arg1131ProfsTer?
ENST00000301323.7:c.406_410del
ENST00000529424.2:n.50-126_50-122del
ENST00000531875.2:c.635_639del	ENSP00000477910.1:p.Ala212GlyfsTer?
ENST00000617875.4:c.3389_3393del	ENSP00000482313.1:p.Arg1131ProfsTer?
ENST00000621189.4:c.2318_2322del	ENSP00000483145.1:p.Arg774ProfsTer?
NM_004260.3:c.3389_3393del	NP_004251.3:p.Arg1131ProfsTer?
XM_011517380.1:c.3464_3468del	XP_011515682.1:p.Arg1156ProfsTer?
XM_011517381.1:c.3368_3372del	XP_011515683.1:p.Arg1124ProfsTer?
XM_011517382.1:c.3272_3276del	XP_011515684.1:p.Arg1092ProfsTer?
XM_011517383.1:c.3266_3270del	XP_011515685.1:p.Arg1090ProfsTer?
XM_011517384.1:c.3191_3195del	XP_011515686.1:p.Arg1065ProfsTer?
XM_011517385.1:c.2327_2331del	XP_011515687.1:p.Arg777ProfsTer?
XR_928366.1:n.3353-126_3353-122del
XR_928367.1:n.3444_3448del
XR_928368.1:n.3337_3341del
XM_011517384.3:c.3191_3195del	XP_011515686.1:p.Arg1065ProfsTer?
XM_017013991.2:c.3554_3558del	XP_016869480.1:p.Ala1185GlyfsTer?
XM_017013992.2:c.3479_3483del	XP_016869481.1:p.Ala1160GlyfsTer?
XM_017013993.2:c.3464_3468del	XP_016869482.1:p.Ala1155GlyfsTer?
XM_017013994.2:c.3458_3462del	XP_016869483.1:p.Ala1153GlyfsTer?
XM_017013995.2:c.3389_3393del	XP_016869484.1:p.Ala1130GlyfsTer?
XM_017013996.2:c.3554_3558del	XP_016869485.1:p.Arg1186ProfsTer?
XM_017013997.2:c.3356_3360del	XP_016869486.1:p.Ala1119GlyfsTer?
XM_017013998.1:c.3479_3483del	XP_016869487.1:p.Arg1161ProfsTer?
XM_017013999.2:c.3266_3270del	XP_016869488.1:p.Ala1089GlyfsTer?
XM_017014000.1:c.2417_2421del	XP_016869489.1:p.Ala806GlyfsTer?
XM_017014001.2:c.2327_2331del	XP_016869490.1:p.Ala776GlyfsTer?
XR_001745626.2:n.3439-126_3439-122del
XR_001745627.2:n.3530_3534del
XR_001745628.2:n.3421_3425del
XR_001745629.2:n.3284_3288del
XR_001745630.2:n.3086_3090del
NM_004260.4:c.3389_3393del MANE Select	NP_004251.4:p.Arg1131ProfsTer?