Canonical Allele Identifier: CA187678854

Gene: RECQL4

Linked Data

• dbSNP Id: rs34375336

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511827dup , CM000670.2:g.144511827dup	GRCh38
NC_000008.10:g.145737210dup , CM000670.1:g.145737210dup	GRCh37
NC_000008.9:g.145708018dup	NCBI36
NG_016430.1:g.11002dup
NG_016430.2:g.11002dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-36dup MANE Select	ENSP00000482313.2:n.3394-36dup
ENST00000301323.7:c.411-36dup
ENST00000529424.2:n.50-36dup
ENST00000531875.2:c.649-36dup	ENSP00000477910.1:n.649-36dup
ENST00000617875.4:c.3394-36dup	ENSP00000482313.1:n.3394-36dup
ENST00000621189.4:c.2323-36dup	ENSP00000483145.1:n.2323-36dup
NM_004260.3:c.3394-36dup	NP_004251.3:n.3394-36dup
XM_011517380.1:c.3469-36dup	XP_011515682.1:n.3469-36dup
XM_011517381.1:c.3373-36dup	XP_011515683.1:n.3373-36dup
XM_011517382.1:c.3277-36dup	XP_011515684.1:n.3277-36dup
XM_011517383.1:c.3271-36dup	XP_011515685.1:n.3271-36dup
XM_011517384.1:c.3196-36dup	XP_011515686.1:n.3196-36dup
XM_011517385.1:c.2332-36dup	XP_011515687.1:n.2332-36dup
XR_928366.1:n.3353-36dup
XR_928367.1:n.3449-36dup
XR_928368.1:n.3342-36dup
XM_011517384.3:c.3196-36dup	XP_011515686.1:n.3196-36dup
XM_017013991.2:c.3644dup	XP_016869480.1:p.Ala1216SerfsTer6
XM_017013992.2:c.3569dup	XP_016869481.1:p.Ala1191SerfsTer6
XM_017013993.2:c.3554dup	XP_016869482.1:p.Ala1186SerfsTer6
XM_017013994.2:c.3548dup	XP_016869483.1:p.Ala1184SerfsTer6
XM_017013995.2:c.3479dup	XP_016869484.1:p.Ala1161SerfsTer6
XM_017013996.2:c.3559-36dup	XP_016869485.1:n.3559-36dup
XM_017013997.2:c.3446dup	XP_016869486.1:p.Ala1150SerfsTer6
XM_017013998.1:c.3484-36dup	XP_016869487.1:n.3484-36dup
XM_017013999.2:c.3356dup	XP_016869488.1:p.Ala1120SerfsTer6
XM_017014000.1:c.2507dup	XP_016869489.1:p.Ala837SerfsTer6
XM_017014001.2:c.2417dup	XP_016869490.1:p.Ala807SerfsTer6
XR_001745626.2:n.3439-36dup
XR_001745627.2:n.3535-36dup
XR_001745628.2:n.3426-36dup
XR_001745629.2:n.3289-36dup
XR_001745630.2:n.3091-36dup
NM_004260.4:c.3394-36dup MANE Select	NP_004251.4:n.3394-36dup