Canonical Allele Identifier: CA1826368081

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515112_144515123delinsGGCCTCAGCCCA , CM000670.2:g.144515112_144515123delinsGGCCTCAGCCCA	GRCh38
NC_000008.10:g.145740496_145740507delinsGGCCTCAGCCCA , CM000670.1:g.145740496_145740507delinsGGCCTCAGCCCA	GRCh37
NC_000008.9:g.145711304_145711315delinsGGCCTCAGCCCA	NCBI36
NG_016430.1:g.7704_7715delinsTGGGCTGAGGCC
NG_033083.1:g.2148_2159delinsGGCCTCAGCCCA
NG_016430.2:g.7704_7715delinsTGGGCTGAGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.506+27_506+38delinsTGGGCTGAGGCC
ENST00000617875.6:c.1483+27_1483+38delinsTGGGCTGAGGCC MANE Select	ENSP00000482313.2:n.1483+27_1483+38delinsTGGGCTGAGGCC
ENST00000532846.2:c.368+27_368+38delinsTGGGCTGAGGCC
ENST00000617875.4:c.1483+27_1483+38delinsTGGGCTGAGGCC	ENSP00000482313.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
ENST00000621189.4:c.412+27_412+38delinsTGGGCTGAGGCC	ENSP00000483145.1:n.412+27_412+38delinsTGGGCTGAGGCC
NM_004260.3:c.1483+27_1483+38delinsTGGGCTGAGGCC	NP_004251.3:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_011517380.1:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_011515682.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_011517381.1:c.1387+27_1387+38delinsTGGGCTGAGGCC	XP_011515683.1:n.1387+27_1387+38delinsTGGGCTGAGGCC
XM_011517382.1:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_011515684.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_011517383.1:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_011515685.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_011517384.1:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_011515686.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_011517385.1:c.346+27_346+38delinsTGGGCTGAGGCC	XP_011515687.1:n.346+27_346+38delinsTGGGCTGAGGCC
XR_928366.1:n.1524+27_1524+38delinsTGGGCTGAGGCC
XR_928367.1:n.1524+27_1524+38delinsTGGGCTGAGGCC
XR_928368.1:n.1526+27_1526+38delinsTGGGCTGAGGCC
XM_011517384.3:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_011515686.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013991.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869480.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013992.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869481.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013993.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869482.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013994.2:c.1387+27_1387+38delinsTGGGCTGAGGCC	XP_016869483.1:n.1387+27_1387+38delinsTGGGCTGAGGCC
XM_017013995.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869484.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013996.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869485.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013997.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869486.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013998.1:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869487.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017013999.2:c.1483+27_1483+38delinsTGGGCTGAGGCC	XP_016869488.1:n.1483+27_1483+38delinsTGGGCTGAGGCC
XM_017014000.1:c.346+27_346+38delinsTGGGCTGAGGCC	XP_016869489.1:n.346+27_346+38delinsTGGGCTGAGGCC
XM_017014001.2:c.346+27_346+38delinsTGGGCTGAGGCC	XP_016869490.1:n.346+27_346+38delinsTGGGCTGAGGCC
XR_001745626.2:n.1520+27_1520+38delinsTGGGCTGAGGCC
XR_001745627.2:n.1520+27_1520+38delinsTGGGCTGAGGCC
XR_001745628.2:n.1520+27_1520+38delinsTGGGCTGAGGCC
XR_001745629.2:n.1520+27_1520+38delinsTGGGCTGAGGCC
XR_001745630.2:n.1520+27_1520+38delinsTGGGCTGAGGCC
NM_004260.4:c.1483+27_1483+38delinsTGGGCTGAGGCC MANE Select	NP_004251.4:n.1483+27_1483+38delinsTGGGCTGAGGCC