Canonical Allele Identifier: CA2689136107

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144515112-G-GGCCTCAGCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515123_144515133dup , CM000670.2:g.144515123_144515133dup	GRCh38
NC_000008.10:g.145740507_145740517dup , CM000670.1:g.145740507_145740517dup	GRCh37
NC_000008.9:g.145711315_145711325dup	NCBI36
NG_016430.1:g.7704_7714dup
NG_033083.1:g.2159_2169dup
NG_016430.2:g.7704_7714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.506+27_506+37dup
ENST00000617875.6:c.1483+27_1483+37dup MANE Select	ENSP00000482313.2:n.1483+27_1483+37dup
ENST00000532846.2:c.368+27_368+37dup
ENST00000617875.4:c.1483+27_1483+37dup	ENSP00000482313.1:n.1483+27_1483+37dup
ENST00000621189.4:c.412+27_412+37dup	ENSP00000483145.1:n.412+27_412+37dup
NM_004260.3:c.1483+27_1483+37dup	NP_004251.3:n.1483+27_1483+37dup
XM_011517380.1:c.1483+27_1483+37dup	XP_011515682.1:n.1483+27_1483+37dup
XM_011517381.1:c.1387+27_1387+37dup	XP_011515683.1:n.1387+27_1387+37dup
XM_011517382.1:c.1483+27_1483+37dup	XP_011515684.1:n.1483+27_1483+37dup
XM_011517383.1:c.1483+27_1483+37dup	XP_011515685.1:n.1483+27_1483+37dup
XM_011517384.1:c.1483+27_1483+37dup	XP_011515686.1:n.1483+27_1483+37dup
XM_011517385.1:c.346+27_346+37dup	XP_011515687.1:n.346+27_346+37dup
XR_928366.1:n.1524+27_1524+37dup
XR_928367.1:n.1524+27_1524+37dup
XR_928368.1:n.1526+27_1526+37dup
XM_011517384.3:c.1483+27_1483+37dup	XP_011515686.1:n.1483+27_1483+37dup
XM_017013991.2:c.1483+27_1483+37dup	XP_016869480.1:n.1483+27_1483+37dup
XM_017013992.2:c.1483+27_1483+37dup	XP_016869481.1:n.1483+27_1483+37dup
XM_017013993.2:c.1483+27_1483+37dup	XP_016869482.1:n.1483+27_1483+37dup
XM_017013994.2:c.1387+27_1387+37dup	XP_016869483.1:n.1387+27_1387+37dup
XM_017013995.2:c.1483+27_1483+37dup	XP_016869484.1:n.1483+27_1483+37dup
XM_017013996.2:c.1483+27_1483+37dup	XP_016869485.1:n.1483+27_1483+37dup
XM_017013997.2:c.1483+27_1483+37dup	XP_016869486.1:n.1483+27_1483+37dup
XM_017013998.1:c.1483+27_1483+37dup	XP_016869487.1:n.1483+27_1483+37dup
XM_017013999.2:c.1483+27_1483+37dup	XP_016869488.1:n.1483+27_1483+37dup
XM_017014000.1:c.346+27_346+37dup	XP_016869489.1:n.346+27_346+37dup
XM_017014001.2:c.346+27_346+37dup	XP_016869490.1:n.346+27_346+37dup
XR_001745626.2:n.1520+27_1520+37dup
XR_001745627.2:n.1520+27_1520+37dup
XR_001745628.2:n.1520+27_1520+37dup
XR_001745629.2:n.1520+27_1520+37dup
XR_001745630.2:n.1520+27_1520+37dup
NM_004260.4:c.1483+27_1483+37dup MANE Select	NP_004251.4:n.1483+27_1483+37dup