Canonical Allele Identifier: CA521020200

Gene: RERE

Linked Data

• dbSNP Id: rs1322968095
• gnomAD v2: 1-8419703-A-AC
• gnomAD v3: 1-8359643-A-AC
• gnomAD v4: 1-8359643-A-AC
• MyVariant Identifiers: chr1:g.8419703_8419704insC (hg19) ; chr1:g.8359643_8359644insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359646dup , CM000663.2:g.8359646dup	GRCh38
NC_000001.10:g.8419706dup , CM000663.1:g.8419706dup	GRCh37
NC_000001.9:g.8342293dup	NCBI36
NG_047035.1:g.463048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1956+120dup	ENSP00000515651.1:n.1956+120dup
ENST00000400908.7:c.3618+120dup MANE Select	ENSP00000383700.2:n.3618+120dup
ENST00000337907.7:c.3618+120dup	ENSP00000338629.3:n.3618+120dup
ENST00000377464.5:c.2814+120dup	ENSP00000366684.1:n.2814+120dup
ENST00000400907.6:c.1541-4045dup	ENSP00000383699.2:n.1541-4045dup
ENST00000400908.6:c.3618+120dup	ENSP00000383700.2:n.3618+120dup
ENST00000476556.5:c.1956+120dup	ENSP00000422246.1:n.1956+120dup
ENST00000505225.1:c.307+1816dup	ENSP00000423451.1:n.307+1816dup
NM_001042681.1:c.3618+120dup	NP_001036146.1:n.3618+120dup
NM_001042682.1:c.1956+120dup	NP_001036147.1:n.1956+120dup
NM_012102.3:c.3618+120dup	NP_036234.3:n.3618+120dup
XM_005263464.1:c.3618+120dup	XP_005263521.1:n.3618+120dup
XM_005263466.1:c.2814+120dup	XP_005263523.1:n.2814+120dup
XM_006710653.1:c.3618+120dup	XP_006710716.1:n.3618+120dup
XM_011541510.1:c.3492+120dup	XP_011539812.1:n.3492+120dup
XM_011541511.1:c.3395+468dup	XP_011539813.1:n.3395+468dup
XM_005263464.2:c.3618+120dup	XP_005263521.1:n.3618+120dup
XM_011541510.2:c.3492+120dup	XP_011539812.1:n.3492+120dup
XM_011541511.2:c.3395+468dup	XP_011539813.1:n.3395+468dup
XM_017001358.1:c.3618+120dup	XP_016856847.1:n.3618+120dup
XM_017001359.1:c.3618+120dup	XP_016856848.1:n.3618+120dup
NM_001042681.2:c.3618+120dup MANE Select	NP_001036146.1:n.3618+120dup
NM_001042682.2:c.1956+120dup	NP_001036147.1:n.1956+120dup
NM_012102.4:c.3618+120dup	NP_036234.3:n.3618+120dup