Canonical Allele Identifier: CA998340572

Gene: RERE

Linked Data

• gnomAD v3: 1-8421960-ACTCTC-A
• gnomAD v4: 1-8421960-ACTCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8421961_8421965del , CM000663.2:g.8421961_8421965del	GRCh38
NC_000001.10:g.8482021_8482025del , CM000663.1:g.8482021_8482025del	GRCh37
NC_000001.9:g.8404608_8404612del	NCBI36
NG_047035.1:g.400727_400731del

Transcript Alleles

HGVS	Amino-acid change
ENST00000465125.2:c.-379+762_-379+766del	ENSP00000515651.1:n.-379+762_-379+766del
ENST00000400908.7:c.1284+762_1284+766del MANE Select	ENSP00000383700.2:n.1284+762_1284+766del
ENST00000656437.1:c.1284+762_1284+766del	ENSP00000499322.1:n.1284+762_1284+766del
ENST00000337907.7:c.1284+762_1284+766del	ENSP00000338629.3:n.1284+762_1284+766del
ENST00000377464.5:c.480+762_480+766del	ENSP00000366684.1:n.480+762_480+766del
ENST00000400907.6:c.1284+762_1284+766del	ENSP00000383699.2:n.1284+762_1284+766del
ENST00000400908.6:c.1284+762_1284+766del	ENSP00000383700.2:n.1284+762_1284+766del
ENST00000460659.5:n.334+762_334+766del
ENST00000465125.1:n.301+762_301+766del
ENST00000476556.5:c.-379+762_-379+766del	ENSP00000422246.1:n.-379+762_-379+766del
ENST00000488215.5:c.-379+762_-379+766del	ENSP00000464847.1:n.-379+762_-379+766del
ENST00000492766.5:n.268+762_268+766del
NM_001042681.1:c.1284+762_1284+766del	NP_001036146.1:n.1284+762_1284+766del
NM_001042682.1:c.-379+762_-379+766del	NP_001036147.1:n.-379+762_-379+766del
NM_012102.3:c.1284+762_1284+766del	NP_036234.3:n.1284+762_1284+766del
XM_005263464.1:c.1284+762_1284+766del	XP_005263521.1:n.1284+762_1284+766del
XM_005263466.1:c.480+762_480+766del	XP_005263523.1:n.480+762_480+766del
XM_006710653.1:c.1284+762_1284+766del	XP_006710716.1:n.1284+762_1284+766del
XM_011541510.1:c.1158+762_1158+766del	XP_011539812.1:n.1158+762_1158+766del
XM_011541511.1:c.1284+762_1284+766del	XP_011539813.1:n.1284+762_1284+766del
XM_005263464.2:c.1284+762_1284+766del	XP_005263521.1:n.1284+762_1284+766del
XM_011541510.2:c.1158+762_1158+766del	XP_011539812.1:n.1158+762_1158+766del
XM_011541511.2:c.1284+762_1284+766del	XP_011539813.1:n.1284+762_1284+766del
XM_017001358.1:c.1284+762_1284+766del	XP_016856847.1:n.1284+762_1284+766del
XM_017001359.1:c.1284+762_1284+766del	XP_016856848.1:n.1284+762_1284+766del
NM_001042681.2:c.1284+762_1284+766del MANE Select	NP_001036146.1:n.1284+762_1284+766del
NM_001042682.2:c.-379+762_-379+766del	NP_001036147.1:n.-379+762_-379+766del
NM_012102.4:c.1284+762_1284+766del	NP_036234.3:n.1284+762_1284+766del