Canonical Allele Identifier: CA2574199149

Gene: RERE

Linked Data

• gnomAD v4: 1-8359812-CTTCTCCTTCTCCTTCTCCCGCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359813_8359836del , CM000663.2:g.8359813_8359836del	GRCh38
NC_000001.10:g.8419873_8419896del , CM000663.1:g.8419873_8419896del	GRCh37
NC_000001.9:g.8342460_8342483del	NCBI36
NG_047035.1:g.462856_462879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1884_1907del	ENSP00000515651.1:p.Glu629_Lys636del
ENST00000400908.7:c.3546_3569del MANE Select	ENSP00000383700.2:p.Glu1183_Lys1190del
ENST00000337907.7:c.3546_3569del	ENSP00000338629.3:p.Glu1183_Lys1190del
ENST00000377464.5:c.2742_2765del	ENSP00000366684.1:p.Glu915_Lys922del
ENST00000400907.6:c.1541-4237_1541-4214del	ENSP00000383699.2:n.1541-4237_1541-4214del
ENST00000400908.6:c.3546_3569del	ENSP00000383700.2:p.Glu1183_Lys1190del
ENST00000476556.5:c.1884_1907del	ENSP00000422246.1:p.Glu629_Lys636del
ENST00000505225.1:c.307+1624_307+1647del	ENSP00000423451.1:n.307+1624_307+1647del
NM_001042681.1:c.3546_3569del	NP_001036146.1:p.Glu1183_Lys1190del
NM_001042682.1:c.1884_1907del	NP_001036147.1:p.Glu629_Lys636del
NM_012102.3:c.3546_3569del	NP_036234.3:p.Glu1183_Lys1190del
XM_005263464.1:c.3546_3569del	XP_005263521.1:p.Glu1183_Lys1190del
XM_005263466.1:c.2742_2765del	XP_005263523.1:p.Glu915_Lys922del
XM_006710653.1:c.3546_3569del	XP_006710716.1:p.Glu1183_Lys1190del
XM_011541510.1:c.3420_3443del	XP_011539812.1:p.Glu1141_Lys1148del
XM_011541511.1:c.3395+276_3395+299del	XP_011539813.1:n.3395+276_3395+299del
XM_005263464.2:c.3546_3569del	XP_005263521.1:p.Glu1183_Lys1190del
XM_011541510.2:c.3420_3443del	XP_011539812.1:p.Glu1141_Lys1148del
XM_011541511.2:c.3395+276_3395+299del	XP_011539813.1:n.3395+276_3395+299del
XM_017001358.1:c.3546_3569del	XP_016856847.1:p.Glu1183_Lys1190del
XM_017001359.1:c.3546_3569del	XP_016856848.1:p.Glu1183_Lys1190del
NM_001042681.2:c.3546_3569del MANE Select	NP_001036146.1:p.Glu1183_Lys1190del
NM_001042682.2:c.1884_1907del	NP_001036147.1:p.Glu629_Lys636del
NM_012102.4:c.3546_3569del	NP_036234.3:p.Glu1183_Lys1190del