Canonical Allele Identifier: CA1826367854

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144514814_144514823delinsGCCACAGACA , CM000670.2:g.144514814_144514823delinsGCCACAGACA	GRCh38
NC_000008.10:g.145740198_145740207delinsGCCACAGACA , CM000670.1:g.145740198_145740207delinsGCCACAGACA	GRCh37
NC_000008.9:g.145711006_145711015delinsGCCACAGACA	NCBI36
NG_016430.1:g.8004_8013delinsTGTCTGTGGC
NG_033083.1:g.1850_1859delinsGCCACAGACA
NG_016430.2:g.8004_8013delinsTGTCTGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.643+113_643+122delinsTGTCTGTGGC
ENST00000617875.6:c.1620+113_1620+122delinsTGTCTGTGGC MANE Select	ENSP00000482313.2:n.1620+113_1620+122delinsTGTCTGTGGC
ENST00000532846.2:c.475+113_475+122delinsTGTCTGTGGC
ENST00000617875.4:c.1620+113_1620+122delinsTGTCTGTGGC	ENSP00000482313.1:n.1620+113_1620+122delinsTGTCTGTGGC
ENST00000621189.4:c.549+113_549+122delinsTGTCTGTGGC	ENSP00000483145.1:n.549+113_549+122delinsTGTCTGTGGC
NM_004260.3:c.1620+113_1620+122delinsTGTCTGTGGC	NP_004251.3:n.1620+113_1620+122delinsTGTCTGTGGC
XM_011517380.1:c.1620+113_1620+122delinsTGTCTGTGGC	XP_011515682.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_011517381.1:c.1524+113_1524+122delinsTGTCTGTGGC	XP_011515683.1:n.1524+113_1524+122delinsTGTCTGTGGC
XM_011517382.1:c.1620+113_1620+122delinsTGTCTGTGGC	XP_011515684.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_011517383.1:c.1620+113_1620+122delinsTGTCTGTGGC	XP_011515685.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_011517384.1:c.1620+113_1620+122delinsTGTCTGTGGC	XP_011515686.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_011517385.1:c.483+113_483+122delinsTGTCTGTGGC	XP_011515687.1:n.483+113_483+122delinsTGTCTGTGGC
XR_928366.1:n.1661+113_1661+122delinsTGTCTGTGGC
XR_928367.1:n.1661+113_1661+122delinsTGTCTGTGGC
XR_928368.1:n.1663+113_1663+122delinsTGTCTGTGGC
XM_011517384.3:c.1620+113_1620+122delinsTGTCTGTGGC	XP_011515686.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013991.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869480.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013992.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869481.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013993.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869482.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013994.2:c.1524+113_1524+122delinsTGTCTGTGGC	XP_016869483.1:n.1524+113_1524+122delinsTGTCTGTGGC
XM_017013995.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869484.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013996.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869485.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013997.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869486.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013998.1:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869487.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017013999.2:c.1620+113_1620+122delinsTGTCTGTGGC	XP_016869488.1:n.1620+113_1620+122delinsTGTCTGTGGC
XM_017014000.1:c.483+113_483+122delinsTGTCTGTGGC	XP_016869489.1:n.483+113_483+122delinsTGTCTGTGGC
XM_017014001.2:c.483+113_483+122delinsTGTCTGTGGC	XP_016869490.1:n.483+113_483+122delinsTGTCTGTGGC
XR_001745626.2:n.1657+113_1657+122delinsTGTCTGTGGC
XR_001745627.2:n.1657+113_1657+122delinsTGTCTGTGGC
XR_001745628.2:n.1657+113_1657+122delinsTGTCTGTGGC
XR_001745629.2:n.1657+113_1657+122delinsTGTCTGTGGC
XR_001745630.2:n.1657+113_1657+122delinsTGTCTGTGGC
NM_004260.4:c.1620+113_1620+122delinsTGTCTGTGGC MANE Select	NP_004251.4:n.1620+113_1620+122delinsTGTCTGTGGC