Canonical Allele Identifier: CA187691100

Gene: RECQL4

Linked Data

• dbSNP Id: rs980828476
• gnomAD v4: 8-144517549-GGCCCCTGCCGACCCGGTGTCTTCTC-G
• MyVariant Identifiers: chr8:g.145742934_145742958del (hg19) ; chr8:g.144517550_144517574del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517555_144517579del , CM000670.2:g.144517555_144517579del	GRCh38
NC_000008.10:g.145742939_145742963del , CM000670.1:g.145742939_145742963del	GRCh37
NC_000008.9:g.145713747_145713771del	NCBI36
NG_016430.1:g.5253_5277del
NG_033083.1:g.4591_4615del
NG_016430.2:g.5253_5277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.118+28_119-42del MANE Select	ENSP00000482313.2:n.118+28_119-42del
ENST00000534538.1:c.28-21_31del
ENST00000617875.4:c.118+28_119-42del	ENSP00000482313.1:n.118+28_119-42del
ENST00000621189.4:c.-954+28_-953-42del	ENSP00000483145.1:n.-954+28_-953-42del
NM_004260.3:c.118+28_119-42del	NP_004251.3:n.118+28_119-42del
XM_011517380.1:c.118+28_119-42del	XP_011515682.1:n.118+28_119-42del
XM_011517381.1:c.118+28_119-42del	XP_011515683.1:n.118+28_119-42del
XM_011517382.1:c.118+28_119-42del	XP_011515684.1:n.118+28_119-42del
XM_011517383.1:c.118+28_119-42del	XP_011515685.1:n.118+28_119-42del
XM_011517384.1:c.118+28_119-42del	XP_011515686.1:n.118+28_119-42del
XR_928366.1:n.159+28_160-42del
XR_928367.1:n.159+28_160-42del
XR_928368.1:n.161+28_162-42del
XM_011517384.3:c.118+28_119-42del	XP_011515686.1:n.118+28_119-42del
XM_017013991.2:c.118+28_119-42del	XP_016869480.1:n.118+28_119-42del
XM_017013992.2:c.118+28_119-42del	XP_016869481.1:n.118+28_119-42del
XM_017013993.2:c.118+28_119-42del	XP_016869482.1:n.118+28_119-42del
XM_017013994.2:c.118+28_119-42del	XP_016869483.1:n.118+28_119-42del
XM_017013995.2:c.118+28_119-42del	XP_016869484.1:n.118+28_119-42del
XM_017013996.2:c.118+28_119-42del	XP_016869485.1:n.118+28_119-42del
XM_017013997.2:c.118+28_119-42del	XP_016869486.1:n.118+28_119-42del
XM_017013998.1:c.118+28_119-42del	XP_016869487.1:n.118+28_119-42del
XM_017013999.2:c.118+28_119-42del	XP_016869488.1:n.118+28_119-42del
XR_001745626.2:n.155+28_156-42del
XR_001745627.2:n.155+28_156-42del
XR_001745628.2:n.155+28_156-42del
XR_001745629.2:n.155+28_156-42del
XR_001745630.2:n.155+28_156-42del
NM_004260.4:c.118+28_119-42del MANE Select	NP_004251.4:n.118+28_119-42del