Canonical Allele Identifier: CA2643066306

Gene: RERE

Linked Data

• gnomAD v4: 1-8359997-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360000_8360001del , CM000663.2:g.8360000_8360001del	GRCh38
NC_000001.10:g.8420060_8420061del , CM000663.1:g.8420060_8420061del	GRCh37
NC_000001.9:g.8342647_8342648del	NCBI36
NG_047035.1:g.462693_462694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1734-13_1734-12del	ENSP00000515651.1:n.1734-13_1734-12del
ENST00000400908.7:c.3396-13_3396-12del MANE Select	ENSP00000383700.2:n.3396-13_3396-12del
ENST00000337907.7:c.3396-13_3396-12del	ENSP00000338629.3:n.3396-13_3396-12del
ENST00000377464.5:c.2592-13_2592-12del	ENSP00000366684.1:n.2592-13_2592-12del
ENST00000400907.6:c.1541-4400_1541-4399del	ENSP00000383699.2:n.1541-4400_1541-4399del
ENST00000400908.6:c.3396-13_3396-12del	ENSP00000383700.2:n.3396-13_3396-12del
ENST00000476556.5:c.1734-13_1734-12del	ENSP00000422246.1:n.1734-13_1734-12del
ENST00000505225.1:c.307+1461_307+1462del	ENSP00000423451.1:n.307+1461_307+1462del
NM_001042681.1:c.3396-13_3396-12del	NP_001036146.1:n.3396-13_3396-12del
NM_001042682.1:c.1734-13_1734-12del	NP_001036147.1:n.1734-13_1734-12del
NM_012102.3:c.3396-13_3396-12del	NP_036234.3:n.3396-13_3396-12del
XM_005263464.1:c.3396-13_3396-12del	XP_005263521.1:n.3396-13_3396-12del
XM_005263466.1:c.2592-13_2592-12del	XP_005263523.1:n.2592-13_2592-12del
XM_006710653.1:c.3396-13_3396-12del	XP_006710716.1:n.3396-13_3396-12del
XM_011541510.1:c.3270-13_3270-12del	XP_011539812.1:n.3270-13_3270-12del
XM_011541511.1:c.3395+113_3395+114del	XP_011539813.1:n.3395+113_3395+114del
XM_005263464.2:c.3396-13_3396-12del	XP_005263521.1:n.3396-13_3396-12del
XM_011541510.2:c.3270-13_3270-12del	XP_011539812.1:n.3270-13_3270-12del
XM_011541511.2:c.3395+113_3395+114del	XP_011539813.1:n.3395+113_3395+114del
XM_017001358.1:c.3396-13_3396-12del	XP_016856847.1:n.3396-13_3396-12del
XM_017001359.1:c.3396-13_3396-12del	XP_016856848.1:n.3396-13_3396-12del
NM_001042681.2:c.3396-13_3396-12del MANE Select	NP_001036146.1:n.3396-13_3396-12del
NM_001042682.2:c.1734-13_1734-12del	NP_001036147.1:n.1734-13_1734-12del
NM_012102.4:c.3396-13_3396-12del	NP_036234.3:n.3396-13_3396-12del