Canonical Allele Identifier: CA848890237

Gene: RECQL4

Linked Data

• dbSNP Id: rs1384755646
• MyVariant Identifiers: chr8:g.145741123_145741135del (hg19) ; chr8:g.144515739_144515751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515740_144515752del , CM000670.2:g.144515740_144515752del	GRCh38
NC_000008.10:g.145741124_145741136del , CM000670.1:g.145741124_145741136del	GRCh37
NC_000008.9:g.145711932_145711944del	NCBI36
NG_016430.1:g.7076_7088del
NG_033083.1:g.2776_2788del
NG_016430.2:g.7076_7088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1258+13_1258+25del MANE Select	ENSP00000482313.2:n.1258+13_1258+25del
ENST00000532846.2:c.143+13_143+25del
ENST00000617875.4:c.1258+13_1258+25del	ENSP00000482313.1:n.1258+13_1258+25del
ENST00000621189.4:c.187+13_187+25del	ENSP00000483145.1:n.187+13_187+25del
NM_004260.3:c.1258+13_1258+25del	NP_004251.3:n.1258+13_1258+25del
XM_011517380.1:c.1258+13_1258+25del	XP_011515682.1:n.1258+13_1258+25del
XM_011517381.1:c.1162+13_1162+25del	XP_011515683.1:n.1162+13_1162+25del
XM_011517382.1:c.1258+13_1258+25del	XP_011515684.1:n.1258+13_1258+25del
XM_011517383.1:c.1258+13_1258+25del	XP_011515685.1:n.1258+13_1258+25del
XM_011517384.1:c.1258+13_1258+25del	XP_011515686.1:n.1258+13_1258+25del
XM_011517385.1:c.125+13_125+25del	XP_011515687.1:n.125+13_125+25del
XR_928366.1:n.1299+13_1299+25del
XR_928367.1:n.1299+13_1299+25del
XR_928368.1:n.1301+13_1301+25del
XM_011517384.3:c.1258+13_1258+25del	XP_011515686.1:n.1258+13_1258+25del
XM_017013991.2:c.1258+13_1258+25del	XP_016869480.1:n.1258+13_1258+25del
XM_017013992.2:c.1258+13_1258+25del	XP_016869481.1:n.1258+13_1258+25del
XM_017013993.2:c.1258+13_1258+25del	XP_016869482.1:n.1258+13_1258+25del
XM_017013994.2:c.1162+13_1162+25del	XP_016869483.1:n.1162+13_1162+25del
XM_017013995.2:c.1258+13_1258+25del	XP_016869484.1:n.1258+13_1258+25del
XM_017013996.2:c.1258+13_1258+25del	XP_016869485.1:n.1258+13_1258+25del
XM_017013997.2:c.1258+13_1258+25del	XP_016869486.1:n.1258+13_1258+25del
XM_017013998.1:c.1258+13_1258+25del	XP_016869487.1:n.1258+13_1258+25del
XM_017013999.2:c.1258+13_1258+25del	XP_016869488.1:n.1258+13_1258+25del
XM_017014000.1:c.125+13_125+25del	XP_016869489.1:n.125+13_125+25del
XM_017014001.2:c.125+13_125+25del	XP_016869490.1:n.125+13_125+25del
XR_001745626.2:n.1295+13_1295+25del
XR_001745627.2:n.1295+13_1295+25del
XR_001745628.2:n.1295+13_1295+25del
XR_001745629.2:n.1295+13_1295+25del
XR_001745630.2:n.1295+13_1295+25del
NM_004260.4:c.1258+13_1258+25del MANE Select	NP_004251.4:n.1258+13_1258+25del