Canonical Allele Identifier: CA1826368417

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515571_144515586delinsGGCTACTTTTTCCAAA , CM000670.2:g.144515571_144515586delinsGGCTACTTTTTCCAAA	GRCh38
NC_000008.10:g.145740955_145740970delinsGGCTACTTTTTCCAAA , CM000670.1:g.145740955_145740970delinsGGCTACTTTTTCCAAA	GRCh37
NC_000008.9:g.145711763_145711778delinsGGCTACTTTTTCCAAA	NCBI36
NG_016430.1:g.7241_7256delinsTTTGGAAAAAGTAGCC
NG_033083.1:g.2607_2622delinsGGCTACTTTTTCCAAA
NG_016430.2:g.7241_7256delinsTTTGGAAAAAGTAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.153_168delinsTTTGGAAAAAGTAGCC
ENST00000617875.6:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC MANE Select	ENSP00000482313.2:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
ENST00000532846.2:c.144-129_144-114delinsTTTGGAAAAAGTAGCC
ENST00000617875.4:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	ENSP00000482313.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
ENST00000621189.4:c.188-129_188-114delinsTTTGGAAAAAGTAGCC	ENSP00000483145.1:n.188-129_188-114delinsTTTGGAAAAAGTAGCC
NM_004260.3:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	NP_004251.3:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_011517380.1:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_011515682.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_011517381.1:c.1163-129_1163-114delinsTTTGGAAAAAGTAGCC	XP_011515683.1:n.1163-129_1163-114delinsTTTGGAAAAAGTAGCC
XM_011517382.1:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_011515684.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_011517383.1:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_011515685.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_011517384.1:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_011515686.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_011517385.1:c.126-133_126-118delinsTTTGGAAAAAGTAGCC	XP_011515687.1:n.126-133_126-118delinsTTTGGAAAAAGTAGCC
XR_928366.1:n.1300-129_1300-114delinsTTTGGAAAAAGTAGCC
XR_928367.1:n.1300-129_1300-114delinsTTTGGAAAAAGTAGCC
XR_928368.1:n.1302-129_1302-114delinsTTTGGAAAAAGTAGCC
XM_011517384.3:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_011515686.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013991.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869480.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013992.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869481.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013993.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869482.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013994.2:c.1163-129_1163-114delinsTTTGGAAAAAGTAGCC	XP_016869483.1:n.1163-129_1163-114delinsTTTGGAAAAAGTAGCC
XM_017013995.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869484.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013996.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869485.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013997.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869486.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013998.1:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869487.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017013999.2:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC	XP_016869488.1:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC
XM_017014000.1:c.126-133_126-118delinsTTTGGAAAAAGTAGCC	XP_016869489.1:n.126-133_126-118delinsTTTGGAAAAAGTAGCC
XM_017014001.2:c.126-133_126-118delinsTTTGGAAAAAGTAGCC	XP_016869490.1:n.126-133_126-118delinsTTTGGAAAAAGTAGCC
XR_001745626.2:n.1296-129_1296-114delinsTTTGGAAAAAGTAGCC
XR_001745627.2:n.1296-129_1296-114delinsTTTGGAAAAAGTAGCC
XR_001745628.2:n.1296-129_1296-114delinsTTTGGAAAAAGTAGCC
XR_001745629.2:n.1296-129_1296-114delinsTTTGGAAAAAGTAGCC
XR_001745630.2:n.1296-129_1296-114delinsTTTGGAAAAAGTAGCC
NM_004260.4:c.1259-129_1259-114delinsTTTGGAAAAAGTAGCC MANE Select	NP_004251.4:n.1259-129_1259-114delinsTTTGGAAAAAGTAGCC