Canonical Allele Identifier: CA1826368047

Gene: RECQL4

Linked Data

• dbSNP Id: rs1827957733

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515068_144515069del , CM000670.2:g.144515068_144515069del	GRCh38
NC_000008.10:g.145740452_145740453del , CM000670.1:g.145740452_145740453del	GRCh37
NC_000008.9:g.145711260_145711261del	NCBI36
NG_016430.1:g.7760_7761del
NG_033083.1:g.2104_2105del
NG_016430.2:g.7760_7761del

Transcript Alleles

HGVS	Amino-acid change
ENST00000688394.1:n.512_513del
ENST00000617875.6:c.1489_1490del MANE Select	ENSP00000482313.2:p.Ser497HisfsTer?
ENST00000532846.2:c.369-25_369-24del
ENST00000617875.4:c.1489_1490del	ENSP00000482313.1:p.Ser497HisfsTer?
ENST00000621189.4:c.418_419del	ENSP00000483145.1:p.Ser140HisfsTer?
NM_004260.3:c.1489_1490del	NP_004251.3:p.Ser497HisfsTer?
XM_011517380.1:c.1489_1490del	XP_011515682.1:p.Ser497HisfsTer?
XM_011517381.1:c.1393_1394del	XP_011515683.1:p.Ser465HisfsTer?
XM_011517382.1:c.1489_1490del	XP_011515684.1:p.Ser497HisfsTer?
XM_011517383.1:c.1489_1490del	XP_011515685.1:p.Ser497HisfsTer?
XM_011517384.1:c.1489_1490del	XP_011515686.1:p.Ser497HisfsTer?
XM_011517385.1:c.352_353del	XP_011515687.1:p.Ser118HisfsTer?
XR_928366.1:n.1530_1531del
XR_928367.1:n.1530_1531del
XR_928368.1:n.1532_1533del
XM_011517384.3:c.1489_1490del	XP_011515686.1:p.Ser497HisfsTer?
XM_017013991.2:c.1489_1490del	XP_016869480.1:p.Ser497HisfsTer?
XM_017013992.2:c.1489_1490del	XP_016869481.1:p.Ser497HisfsTer?
XM_017013993.2:c.1489_1490del	XP_016869482.1:p.Ser497HisfsTer?
XM_017013994.2:c.1393_1394del	XP_016869483.1:p.Ser465HisfsTer?
XM_017013995.2:c.1489_1490del	XP_016869484.1:p.Ser497HisfsTer?
XM_017013996.2:c.1489_1490del	XP_016869485.1:p.Ser497HisfsTer?
XM_017013997.2:c.1489_1490del	XP_016869486.1:p.Ser497HisfsTer?
XM_017013998.1:c.1489_1490del	XP_016869487.1:p.Ser497HisfsTer?
XM_017013999.2:c.1489_1490del	XP_016869488.1:p.Ser497HisfsTer?
XM_017014000.1:c.352_353del	XP_016869489.1:p.Ser118HisfsTer?
XM_017014001.2:c.352_353del	XP_016869490.1:p.Ser118HisfsTer?
XR_001745626.2:n.1526_1527del
XR_001745627.2:n.1526_1527del
XR_001745628.2:n.1526_1527del
XR_001745629.2:n.1526_1527del
XR_001745630.2:n.1526_1527del
NM_004260.4:c.1489_1490del MANE Select	NP_004251.4:p.Ser497HisfsTer?