Canonical Allele Identifier: CA658657853

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 459359
• ClinVar RCV Id: RCV000556402
• dbSNP Id: rs1554904685
• MyVariant Identifiers: chr8:g.145742811_145742817del (hg19) ; chr8:g.144517427_144517433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517430_144517436del , CM000670.2:g.144517430_144517436del	GRCh38
NC_000008.10:g.145742814_145742820del , CM000670.1:g.145742814_145742820del	GRCh37
NC_000008.9:g.145713622_145713628del	NCBI36
NG_016430.1:g.5394_5400del
NG_033083.1:g.4466_4472del
NG_016430.2:g.5394_5400del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.194_200del MANE Select	ENSP00000482313.2:p.Leu65ArgfsTer16
ENST00000524998.1:c.67_73del
ENST00000534270.1:n.140_146del
ENST00000534538.1:c.148_154del
ENST00000617875.4:c.194_200del	ENSP00000482313.1:p.Leu65ArgfsTer16
ENST00000621189.4:c.-878_-872del	ENSP00000483145.1:n.-878_-872del
NM_004260.3:c.194_200del	NP_004251.3:p.Leu65ArgfsTer16
XM_011517380.1:c.194_200del	XP_011515682.1:p.Leu65ArgfsTer16
XM_011517381.1:c.194_200del	XP_011515683.1:p.Leu65ArgfsTer16
XM_011517382.1:c.194_200del	XP_011515684.1:p.Leu65ArgfsTer16
XM_011517383.1:c.194_200del	XP_011515685.1:p.Leu65ArgfsTer16
XM_011517384.1:c.194_200del	XP_011515686.1:p.Leu65ArgfsTer16
XR_928366.1:n.235_241del
XR_928367.1:n.235_241del
XR_928368.1:n.237_243del
XM_011517384.3:c.194_200del	XP_011515686.1:p.Leu65ArgfsTer16
XM_017013991.2:c.194_200del	XP_016869480.1:p.Leu65ArgfsTer16
XM_017013992.2:c.194_200del	XP_016869481.1:p.Leu65ArgfsTer16
XM_017013993.2:c.194_200del	XP_016869482.1:p.Leu65ArgfsTer16
XM_017013994.2:c.194_200del	XP_016869483.1:p.Leu65ArgfsTer16
XM_017013995.2:c.194_200del	XP_016869484.1:p.Leu65ArgfsTer16
XM_017013996.2:c.194_200del	XP_016869485.1:p.Leu65ArgfsTer16
XM_017013997.2:c.194_200del	XP_016869486.1:p.Leu65ArgfsTer16
XM_017013998.1:c.194_200del	XP_016869487.1:p.Leu65ArgfsTer16
XM_017013999.2:c.194_200del	XP_016869488.1:p.Leu65ArgfsTer16
XM_017014001.2:c.-940_-934del	XP_016869490.1:n.-940_-934del
XR_001745626.2:n.231_237del
XR_001745627.2:n.231_237del
XR_001745628.2:n.231_237del
XR_001745629.2:n.231_237del
XR_001745630.2:n.231_237del
NM_004260.4:c.194_200del MANE Select	NP_004251.4:p.Leu65ArgfsTer16