Canonical Allele Identifier: CA848890631

Gene: RECQL4

Linked Data

• dbSNP Id: rs1471678060
• MyVariant Identifiers: chr8:g.145741303_145741304del (hg19) ; chr8:g.144515919_144515920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515919_144515920del , CM000670.2:g.144515919_144515920del	GRCh38
NC_000008.10:g.145741303_145741304del , CM000670.1:g.145741303_145741304del	GRCh37
NC_000008.9:g.145712111_145712112del	NCBI36
NG_016430.1:g.6907_6908del
NG_033083.1:g.2955_2956del
NG_016430.2:g.6907_6908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1132-30_1132-29del MANE Select	ENSP00000482313.2:n.1132-30_1132-29del
ENST00000524998.1:c.654-30_654-29del
ENST00000532846.2:c.17-30_17-29del
ENST00000617875.4:c.1132-30_1132-29del	ENSP00000482313.1:n.1132-30_1132-29del
ENST00000621189.4:c.61-30_61-29del	ENSP00000483145.1:n.61-30_61-29del
NM_004260.3:c.1132-30_1132-29del	NP_004251.3:n.1132-30_1132-29del
XM_011517380.1:c.1132-30_1132-29del	XP_011515682.1:n.1132-30_1132-29del
XM_011517381.1:c.1036-30_1036-29del	XP_011515683.1:n.1036-30_1036-29del
XM_011517382.1:c.1132-30_1132-29del	XP_011515684.1:n.1132-30_1132-29del
XM_011517383.1:c.1132-30_1132-29del	XP_011515685.1:n.1132-30_1132-29del
XM_011517384.1:c.1132-30_1132-29del	XP_011515686.1:n.1132-30_1132-29del
XM_011517385.1:c.-2-30_-2-29del	XP_011515687.1:n.-2-30_-2-29del
XR_928366.1:n.1173-30_1173-29del
XR_928367.1:n.1173-30_1173-29del
XR_928368.1:n.1175-30_1175-29del
XM_011517384.3:c.1132-30_1132-29del	XP_011515686.1:n.1132-30_1132-29del
XM_017013991.2:c.1132-30_1132-29del	XP_016869480.1:n.1132-30_1132-29del
XM_017013992.2:c.1132-30_1132-29del	XP_016869481.1:n.1132-30_1132-29del
XM_017013993.2:c.1132-30_1132-29del	XP_016869482.1:n.1132-30_1132-29del
XM_017013994.2:c.1036-30_1036-29del	XP_016869483.1:n.1036-30_1036-29del
XM_017013995.2:c.1132-30_1132-29del	XP_016869484.1:n.1132-30_1132-29del
XM_017013996.2:c.1132-30_1132-29del	XP_016869485.1:n.1132-30_1132-29del
XM_017013997.2:c.1132-30_1132-29del	XP_016869486.1:n.1132-30_1132-29del
XM_017013998.1:c.1132-30_1132-29del	XP_016869487.1:n.1132-30_1132-29del
XM_017013999.2:c.1132-30_1132-29del	XP_016869488.1:n.1132-30_1132-29del
XM_017014000.1:c.-2-30_-2-29del	XP_016869489.1:n.-2-30_-2-29del
XM_017014001.2:c.-2-30_-2-29del	XP_016869490.1:n.-2-30_-2-29del
XR_001745626.2:n.1169-30_1169-29del
XR_001745627.2:n.1169-30_1169-29del
XR_001745628.2:n.1169-30_1169-29del
XR_001745629.2:n.1169-30_1169-29del
XR_001745630.2:n.1169-30_1169-29del
NM_004260.4:c.1132-30_1132-29del MANE Select	NP_004251.4:n.1132-30_1132-29del