Canonical Allele Identifier: CA2718733357

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130741590

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517494_144517495insC , CM000670.2:g.144517494_144517495insC	GRCh38
NC_000008.10:g.145742878_145742879insC , CM000670.1:g.145742878_145742879insC	GRCh37
NC_000008.9:g.145713686_145713687insC	NCBI36
NG_016430.1:g.5332_5333insG
NG_033083.1:g.4530_4531insC
NG_016430.2:g.5332_5333insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.132_133insG MANE Select	ENSP00000482313.2:p.Tyr45ValfsTer?
ENST00000524998.1:c.5_6insG
ENST00000534270.1:n.78_79insG
ENST00000534538.1:c.86_87insG
ENST00000617875.4:c.132_133insG	ENSP00000482313.1:p.Tyr45ValfsTer?
ENST00000621189.4:c.-940_-939insG	ENSP00000483145.1:n.-940_-939insG
NM_004260.3:c.132_133insG	NP_004251.3:p.Tyr45ValfsTer?
XM_011517380.1:c.132_133insG	XP_011515682.1:p.Tyr45ValfsTer?
XM_011517381.1:c.132_133insG	XP_011515683.1:p.Tyr45ValfsTer?
XM_011517382.1:c.132_133insG	XP_011515684.1:p.Tyr45ValfsTer?
XM_011517383.1:c.132_133insG	XP_011515685.1:p.Tyr45ValfsTer?
XM_011517384.1:c.132_133insG	XP_011515686.1:p.Tyr45ValfsTer?
XR_928366.1:n.173_174insG
XR_928367.1:n.173_174insG
XR_928368.1:n.175_176insG
XM_011517384.3:c.132_133insG	XP_011515686.1:p.Tyr45ValfsTer?
XM_017013991.2:c.132_133insG	XP_016869480.1:p.Tyr45ValfsTer?
XM_017013992.2:c.132_133insG	XP_016869481.1:p.Tyr45ValfsTer?
XM_017013993.2:c.132_133insG	XP_016869482.1:p.Tyr45ValfsTer?
XM_017013994.2:c.132_133insG	XP_016869483.1:p.Tyr45ValfsTer?
XM_017013995.2:c.132_133insG	XP_016869484.1:p.Tyr45ValfsTer?
XM_017013996.2:c.132_133insG	XP_016869485.1:p.Tyr45ValfsTer?
XM_017013997.2:c.132_133insG	XP_016869486.1:p.Tyr45ValfsTer?
XM_017013998.1:c.132_133insG	XP_016869487.1:p.Tyr45ValfsTer?
XM_017013999.2:c.132_133insG	XP_016869488.1:p.Tyr45ValfsTer?
XM_017014001.2:c.-1002_-1001insG	XP_016869490.1:n.-1002_-1001insG
XR_001745626.2:n.169_170insG
XR_001745627.2:n.169_170insG
XR_001745628.2:n.169_170insG
XR_001745629.2:n.169_170insG
XR_001745630.2:n.169_170insG
NM_004260.4:c.132_133insG MANE Select	NP_004251.4:p.Tyr45ValfsTer?