Canonical Allele Identifier: CA2689136131

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144515160-CCGCATGACTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515164_144515175del , CM000670.2:g.144515164_144515175del	GRCh38
NC_000008.10:g.145740548_145740559del , CM000670.1:g.145740548_145740559del	GRCh37
NC_000008.9:g.145711356_145711367del	NCBI36
NG_016430.1:g.7655_7666del
NG_033083.1:g.2200_2211del
NG_016430.2:g.7655_7666del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688394.1:n.484_495del
ENST00000617875.6:c.1461_1472del MANE Select	ENSP00000482313.2:p.Ala488_Arg491del
ENST00000532846.2:c.346_357del
ENST00000617875.4:c.1461_1472del	ENSP00000482313.1:p.Ala488_Arg491del
ENST00000621189.4:c.390_401del	ENSP00000483145.1:p.Ala131_Arg134del
NM_004260.3:c.1461_1472del	NP_004251.3:p.Ala488_Arg491del
XM_011517380.1:c.1461_1472del	XP_011515682.1:p.Ala488_Arg491del
XM_011517381.1:c.1365_1376del	XP_011515683.1:p.Ala456_Arg459del
XM_011517382.1:c.1461_1472del	XP_011515684.1:p.Ala488_Arg491del
XM_011517383.1:c.1461_1472del	XP_011515685.1:p.Ala488_Arg491del
XM_011517384.1:c.1461_1472del	XP_011515686.1:p.Ala488_Arg491del
XM_011517385.1:c.324_335del	XP_011515687.1:p.Ala109_Arg112del
XR_928366.1:n.1502_1513del
XR_928367.1:n.1502_1513del
XR_928368.1:n.1504_1515del
XM_011517384.3:c.1461_1472del	XP_011515686.1:p.Ala488_Arg491del
XM_017013991.2:c.1461_1472del	XP_016869480.1:p.Ala488_Arg491del
XM_017013992.2:c.1461_1472del	XP_016869481.1:p.Ala488_Arg491del
XM_017013993.2:c.1461_1472del	XP_016869482.1:p.Ala488_Arg491del
XM_017013994.2:c.1365_1376del	XP_016869483.1:p.Ala456_Arg459del
XM_017013995.2:c.1461_1472del	XP_016869484.1:p.Ala488_Arg491del
XM_017013996.2:c.1461_1472del	XP_016869485.1:p.Ala488_Arg491del
XM_017013997.2:c.1461_1472del	XP_016869486.1:p.Ala488_Arg491del
XM_017013998.1:c.1461_1472del	XP_016869487.1:p.Ala488_Arg491del
XM_017013999.2:c.1461_1472del	XP_016869488.1:p.Ala488_Arg491del
XM_017014000.1:c.324_335del	XP_016869489.1:p.Ala109_Arg112del
XM_017014001.2:c.324_335del	XP_016869490.1:p.Ala109_Arg112del
XR_001745626.2:n.1498_1509del
XR_001745627.2:n.1498_1509del
XR_001745628.2:n.1498_1509del
XR_001745629.2:n.1498_1509del
XR_001745630.2:n.1498_1509del
NM_004260.4:c.1461_1472del MANE Select	NP_004251.4:p.Ala488_Arg491del