Canonical Allele Identifier: CA570756

Gene: RERE

Linked Data

• dbSNP Id: rs772313364
• ExAC: 1:8415638 A / AGGT
• gnomAD v2: 1-8415638-A-AGGT
• gnomAD v3: 1-8355578-A-AGGT
• gnomAD v4: 1-8355578-A-AGGT
• MyVariant Identifiers: chr1:g.8415638_8415639insGGT (hg19) ; chr1:g.8355578_8355579insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355579_8355581dup , CM000663.2:g.8355579_8355581dup	GRCh38
NC_000001.10:g.8415639_8415641dup , CM000663.1:g.8415639_8415641dup	GRCh37
NC_000001.9:g.8338226_8338228dup	NCBI36
NG_047035.1:g.467111_467113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.2843_2845dup	ENSP00000515651.1:p.Asp948_Leu949insHis
ENST00000400908.7:c.4505_4507dup MANE Select	ENSP00000383700.2:p.Asp1502_Leu1503insHis
ENST00000337907.7:c.4505_4507dup	ENSP00000338629.3:p.Asp1502_Leu1503insHis
ENST00000377464.5:c.3701_3703dup	ENSP00000366684.1:p.Asp1234_Leu1235insHis
ENST00000400907.6:c.1559_1561dup	ENSP00000383699.2:p.Asp520_Leu521insHis
ENST00000400908.6:c.4505_4507dup	ENSP00000383700.2:p.Asp1502_Leu1503insHis
ENST00000476556.5:c.2843_2845dup	ENSP00000422246.1:p.Asp948_Leu949insHis
ENST00000505225.1:c.473_475dup	ENSP00000423451.1:p.Asp158_Leu159insHis
NM_001042681.1:c.4505_4507dup	NP_001036146.1:p.Asp1502_Leu1503insHis
NM_001042682.1:c.2843_2845dup	NP_001036147.1:p.Asp948_Leu949insHis
NM_012102.3:c.4505_4507dup	NP_036234.3:p.Asp1502_Leu1503insHis
XM_005263464.1:c.4505_4507dup	XP_005263521.1:p.Asp1502_Leu1503insHis
XM_005263466.1:c.3701_3703dup	XP_005263523.1:p.Asp1234_Leu1235insHis
XM_006710653.1:c.4505_4507dup	XP_006710716.1:p.Asp1502_Leu1503insHis
XM_011541510.1:c.4379_4381dup	XP_011539812.1:p.Asp1460_Leu1461insHis
XM_005263464.2:c.4505_4507dup	XP_005263521.1:p.Asp1502_Leu1503insHis
XM_011541510.2:c.4379_4381dup	XP_011539812.1:p.Asp1460_Leu1461insHis
XM_017001358.1:c.4505_4507dup	XP_016856847.1:p.Asp1502_Leu1503insHis
XM_017001359.1:c.4505_4507dup	XP_016856848.1:p.Asp1502_Leu1503insHis
NM_001042681.2:c.4505_4507dup MANE Select	NP_001036146.1:p.Asp1502_Leu1503insHis
NM_001042682.2:c.2843_2845dup	NP_001036147.1:p.Asp948_Leu949insHis
NM_012102.4:c.4505_4507dup	NP_036234.3:p.Asp1502_Leu1503insHis