Canonical Allele Identifier: CA7578128

Gene: RFX7

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.56095268_56095271del , CM000677.2:g.56095268_56095271del	GRCh38
NC_000015.9:g.56387466_56387469del , CM000677.1:g.56387466_56387469del	GRCh37
NC_000015.8:g.54174758_54174761del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559447.8:c.2459_2462del MANE Select	ENSP00000453281.3:p.Val820GlyfsTer3
ENST00000559447.7:c.2168_2171del	ENSP00000453281.2:p.Val723GlyfsTer3
ENST00000559847.7:c.2168_2171del	ENSP00000453376.2:p.Val723GlyfsTer3
ENST00000673874.1:c.2459_2462del	ENSP00000501317.1:p.Val820GlyfsTer3
ENST00000673948.1:c.2168_2171del	ENSP00000501249.1:p.Val723GlyfsTer3
ENST00000673997.1:c.2168_2171del	ENSP00000501278.1:p.Val723GlyfsTer3
ENST00000674082.1:c.2168_2171del	ENSP00000501248.1:p.Val723GlyfsTer3
ENST00000559447.6:c.2168_2171del	ENSP00000453281.2:p.Val723GlyfsTer3
ENST00000559847.6:c.2168_2171del	ENSP00000453376.2:p.Val723GlyfsTer3
NM_022841.5:c.2459_2462del	NP_073752.5:p.Val820GlyfsTer3
XM_005254603.3:c.2459_2462del	XP_005254660.2:p.Val820GlyfsTer3
XM_011521925.1:c.2168_2171del	XP_011520227.1:p.Val723GlyfsTer3
XM_011521926.1:c.2168_2171del	XP_011520228.1:p.Val723GlyfsTer3
XM_011521925.2:c.2168_2171del	XP_011520227.1:p.Val723GlyfsTer3
XM_017022506.1:c.2459_2462del	XP_016877995.1:p.Val820GlyfsTer3
XM_017022507.1:c.2168_2171del	XP_016877996.1:p.Val723GlyfsTer3
XM_017022508.1:c.2168_2171del	XP_016877997.1:p.Val723GlyfsTer3
NM_001368073.2:c.2168_2171del	NP_001355002.1:p.Val723GlyfsTer3
NM_001368074.1:c.2168_2171del	NP_001355003.1:p.Val723GlyfsTer3
NM_001370554.1:c.2168_2171del	NP_001357483.1:p.Val723GlyfsTer3
NM_001370561.1:c.2459_2462del	NP_001357490.1:p.Val820GlyfsTer3
NM_022841.7:c.2459_2462del MANE Select	NP_073752.6:p.Val820GlyfsTer3