Canonical Allele Identifier: CA571113

Gene: RERE

Linked Data

• dbSNP Id: rs778116679
• ExAC: 1:8419883 CCTT / C
• gnomAD v2: 1-8419883-CCTT-C
• gnomAD v4: 1-8359823-CCTT-C
• MyVariant Identifiers: chr1:g.8419884_8419886del (hg19) ; chr1:g.8359824_8359826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359826_8359828del , CM000663.2:g.8359826_8359828del	GRCh38
NC_000001.10:g.8419886_8419888del , CM000663.1:g.8419886_8419888del	GRCh37
NC_000001.9:g.8342473_8342475del	NCBI36
NG_047035.1:g.462866_462868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1894_1896del	ENSP00000515651.1:p.Lys632del
ENST00000400908.7:c.3556_3558del MANE Select	ENSP00000383700.2:p.Lys1186del
ENST00000337907.7:c.3556_3558del	ENSP00000338629.3:p.Lys1186del
ENST00000377464.5:c.2752_2754del	ENSP00000366684.1:p.Lys918del
ENST00000400907.6:c.1541-4227_1541-4225del	ENSP00000383699.2:n.1541-4227_1541-4225del
ENST00000400908.6:c.3556_3558del	ENSP00000383700.2:p.Lys1186del
ENST00000476556.5:c.1894_1896del	ENSP00000422246.1:p.Lys632del
ENST00000505225.1:c.307+1634_307+1636del	ENSP00000423451.1:n.307+1634_307+1636del
NM_001042681.1:c.3556_3558del	NP_001036146.1:p.Lys1186del
NM_001042682.1:c.1894_1896del	NP_001036147.1:p.Lys632del
NM_012102.3:c.3556_3558del	NP_036234.3:p.Lys1186del
XM_005263464.1:c.3556_3558del	XP_005263521.1:p.Lys1186del
XM_005263466.1:c.2752_2754del	XP_005263523.1:p.Lys918del
XM_006710653.1:c.3556_3558del	XP_006710716.1:p.Lys1186del
XM_011541510.1:c.3430_3432del	XP_011539812.1:p.Lys1144del
XM_011541511.1:c.3395+286_3395+288del	XP_011539813.1:n.3395+286_3395+288del
XM_005263464.2:c.3556_3558del	XP_005263521.1:p.Lys1186del
XM_011541510.2:c.3430_3432del	XP_011539812.1:p.Lys1144del
XM_011541511.2:c.3395+286_3395+288del	XP_011539813.1:n.3395+286_3395+288del
XM_017001358.1:c.3556_3558del	XP_016856847.1:p.Lys1186del
XM_017001359.1:c.3556_3558del	XP_016856848.1:p.Lys1186del
NM_001042681.2:c.3556_3558del MANE Select	NP_001036146.1:p.Lys1186del
NM_001042682.2:c.1894_1896del	NP_001036147.1:p.Lys632del
NM_012102.4:c.3556_3558del	NP_036234.3:p.Lys1186del