Canonical Allele Identifier: CA2689135987

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144514804-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144514807del , CM000670.2:g.144514807del	GRCh38
NC_000008.10:g.145740191del , CM000670.1:g.145740191del	GRCh37
NC_000008.9:g.145710999del	NCBI36
NG_016430.1:g.8022del
NG_033083.1:g.1843del
NG_016430.2:g.8022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.643+131del
ENST00000617875.6:c.1620+131del MANE Select	ENSP00000482313.2:n.1620+131del
ENST00000532846.2:c.475+131del
ENST00000617875.4:c.1620+131del	ENSP00000482313.1:n.1620+131del
ENST00000621189.4:c.549+131del	ENSP00000483145.1:n.549+131del
NM_004260.3:c.1620+131del	NP_004251.3:n.1620+131del
XM_011517380.1:c.1620+131del	XP_011515682.1:n.1620+131del
XM_011517381.1:c.1524+131del	XP_011515683.1:n.1524+131del
XM_011517382.1:c.1620+131del	XP_011515684.1:n.1620+131del
XM_011517383.1:c.1620+131del	XP_011515685.1:n.1620+131del
XM_011517384.1:c.1620+131del	XP_011515686.1:n.1620+131del
XM_011517385.1:c.483+131del	XP_011515687.1:n.483+131del
XR_928366.1:n.1661+131del
XR_928367.1:n.1661+131del
XR_928368.1:n.1663+131del
XM_011517384.3:c.1620+131del	XP_011515686.1:n.1620+131del
XM_017013991.2:c.1620+131del	XP_016869480.1:n.1620+131del
XM_017013992.2:c.1620+131del	XP_016869481.1:n.1620+131del
XM_017013993.2:c.1620+131del	XP_016869482.1:n.1620+131del
XM_017013994.2:c.1524+131del	XP_016869483.1:n.1524+131del
XM_017013995.2:c.1620+131del	XP_016869484.1:n.1620+131del
XM_017013996.2:c.1620+131del	XP_016869485.1:n.1620+131del
XM_017013997.2:c.1620+131del	XP_016869486.1:n.1620+131del
XM_017013998.1:c.1620+131del	XP_016869487.1:n.1620+131del
XM_017013999.2:c.1620+131del	XP_016869488.1:n.1620+131del
XM_017014000.1:c.483+131del	XP_016869489.1:n.483+131del
XM_017014001.2:c.483+131del	XP_016869490.1:n.483+131del
XR_001745626.2:n.1657+131del
XR_001745627.2:n.1657+131del
XR_001745628.2:n.1657+131del
XR_001745629.2:n.1657+131del
XR_001745630.2:n.1657+131del
NM_004260.4:c.1620+131del MANE Select	NP_004251.4:n.1620+131del