Canonical Allele Identifier: CA521020225

Gene: RERE

Linked Data

• gnomAD v2: 1-8419790-GC-G
• gnomAD v4: 1-8359730-GC-G
• MyVariant Identifiers: chr1:g.8419791del (hg19) ; chr1:g.8359731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359736del , CM000663.2:g.8359736del	GRCh38
NC_000001.10:g.8419796del , CM000663.1:g.8419796del	GRCh37
NC_000001.9:g.8342383del	NCBI36
NG_047035.1:g.462961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1956+33del	ENSP00000515651.1:n.1956+33del
ENST00000400908.7:c.3618+33del MANE Select	ENSP00000383700.2:n.3618+33del
ENST00000337907.7:c.3618+33del	ENSP00000338629.3:n.3618+33del
ENST00000377464.5:c.2814+33del	ENSP00000366684.1:n.2814+33del
ENST00000400907.6:c.1541-4132del	ENSP00000383699.2:n.1541-4132del
ENST00000400908.6:c.3618+33del	ENSP00000383700.2:n.3618+33del
ENST00000476556.5:c.1956+33del	ENSP00000422246.1:n.1956+33del
ENST00000505225.1:c.307+1729del	ENSP00000423451.1:n.307+1729del
NM_001042681.1:c.3618+33del	NP_001036146.1:n.3618+33del
NM_001042682.1:c.1956+33del	NP_001036147.1:n.1956+33del
NM_012102.3:c.3618+33del	NP_036234.3:n.3618+33del
XM_005263464.1:c.3618+33del	XP_005263521.1:n.3618+33del
XM_005263466.1:c.2814+33del	XP_005263523.1:n.2814+33del
XM_006710653.1:c.3618+33del	XP_006710716.1:n.3618+33del
XM_011541510.1:c.3492+33del	XP_011539812.1:n.3492+33del
XM_011541511.1:c.3395+381del	XP_011539813.1:n.3395+381del
XM_005263464.2:c.3618+33del	XP_005263521.1:n.3618+33del
XM_011541510.2:c.3492+33del	XP_011539812.1:n.3492+33del
XM_011541511.2:c.3395+381del	XP_011539813.1:n.3395+381del
XM_017001358.1:c.3618+33del	XP_016856847.1:n.3618+33del
XM_017001359.1:c.3618+33del	XP_016856848.1:n.3618+33del
NM_001042681.2:c.3618+33del MANE Select	NP_001036146.1:n.3618+33del
NM_001042682.2:c.1956+33del	NP_001036147.1:n.1956+33del
NM_012102.4:c.3618+33del	NP_036234.3:n.3618+33del