Canonical Allele Identifier: CA4948489

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513737_144513743del , CM000670.2:g.144513737_144513743del	GRCh38
NC_000008.10:g.145739121_145739127del , CM000670.1:g.145739121_145739127del	GRCh37
NC_000008.9:g.145709929_145709935del	NCBI36
NG_016430.1:g.9089_9095del
NG_033083.1:g.773_779del
NG_016430.2:g.9089_9095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2059-26_2059-20del MANE Select	ENSP00000482313.2:n.2059-26_2059-20del
ENST00000532846.2:c.914-26_914-20del
ENST00000534626.6:c.428-26_428-20del
ENST00000617875.4:c.2059-26_2059-20del	ENSP00000482313.1:n.2059-26_2059-20del
ENST00000621189.4:c.988-26_988-20del	ENSP00000483145.1:n.988-26_988-20del
NM_004260.3:c.2059-26_2059-20del	NP_004251.3:n.2059-26_2059-20del
XM_011517380.1:c.2059-26_2059-20del	XP_011515682.1:n.2059-26_2059-20del
XM_011517381.1:c.1963-26_1963-20del	XP_011515683.1:n.1963-26_1963-20del
XM_011517382.1:c.2059-26_2059-20del	XP_011515684.1:n.2059-26_2059-20del
XM_011517383.1:c.2059-26_2059-20del	XP_011515685.1:n.2059-26_2059-20del
XM_011517384.1:c.2059-26_2059-20del	XP_011515686.1:n.2059-26_2059-20del
XM_011517385.1:c.922-26_922-20del	XP_011515687.1:n.922-26_922-20del
XR_928366.1:n.2100-26_2100-20del
XR_928367.1:n.2100-26_2100-20del
XR_928368.1:n.2102-26_2102-20del
XM_011517384.3:c.2059-26_2059-20del	XP_011515686.1:n.2059-26_2059-20del
XM_017013991.2:c.2059-26_2059-20del	XP_016869480.1:n.2059-26_2059-20del
XM_017013992.2:c.2059-26_2059-20del	XP_016869481.1:n.2059-26_2059-20del
XM_017013993.2:c.2059-26_2059-20del	XP_016869482.1:n.2059-26_2059-20del
XM_017013994.2:c.1963-26_1963-20del	XP_016869483.1:n.1963-26_1963-20del
XM_017013995.2:c.2059-26_2059-20del	XP_016869484.1:n.2059-26_2059-20del
XM_017013996.2:c.2059-26_2059-20del	XP_016869485.1:n.2059-26_2059-20del
XM_017013997.2:c.2059-26_2059-20del	XP_016869486.1:n.2059-26_2059-20del
XM_017013998.1:c.2059-26_2059-20del	XP_016869487.1:n.2059-26_2059-20del
XM_017013999.2:c.2059-26_2059-20del	XP_016869488.1:n.2059-26_2059-20del
XM_017014000.1:c.922-26_922-20del	XP_016869489.1:n.922-26_922-20del
XM_017014001.2:c.922-26_922-20del	XP_016869490.1:n.922-26_922-20del
XR_001745626.2:n.2096-26_2096-20del
XR_001745627.2:n.2096-26_2096-20del
XR_001745628.2:n.2096-26_2096-20del
XR_001745629.2:n.2095+190_2095+196del
XR_001745630.2:n.2095+190_2095+196del
NM_004260.4:c.2059-26_2059-20del MANE Select	NP_004251.4:n.2059-26_2059-20del