Canonical Allele Identifier: CA2643066249

Gene: RERE

Linked Data

• gnomAD v4: 1-8359760-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359763_8359764del , CM000663.2:g.8359763_8359764del	GRCh38
NC_000001.10:g.8419823_8419824del , CM000663.1:g.8419823_8419824del	GRCh37
NC_000001.9:g.8342410_8342411del	NCBI36
NG_047035.1:g.462930_462931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1956+2_1956+3del
ENST00000400908.7:c.3618+2_3618+3del
ENST00000337907.7:c.3618+2_3618+3del
ENST00000377464.5:c.2814+2_2814+3del
ENST00000400907.6:c.1541-4163_1541-4162del	ENSP00000383699.2:n.1541-4163_1541-4162del
ENST00000400908.6:c.3618+2_3618+3del
ENST00000476556.5:c.1956+2_1956+3del
ENST00000505225.1:c.307+1698_307+1699del	ENSP00000423451.1:n.307+1698_307+1699del
NM_001042681.1:c.3618+2_3618+3del
NM_001042682.1:c.1956+2_1956+3del
NM_012102.3:c.3618+2_3618+3del
XM_005263464.1:c.3618+2_3618+3del
XM_005263466.1:c.2814+2_2814+3del
XM_006710653.1:c.3618+2_3618+3del
XM_011541510.1:c.3492+2_3492+3del
XM_011541511.1:c.3395+350_3395+351del	XP_011539813.1:n.3395+350_3395+351del
XM_005263464.2:c.3618+2_3618+3del
XM_011541510.2:c.3492+2_3492+3del
XM_011541511.2:c.3395+350_3395+351del	XP_011539813.1:n.3395+350_3395+351del
XM_017001358.1:c.3618+2_3618+3del
XM_017001359.1:c.3618+2_3618+3del
NM_001042681.2:c.3618+2_3618+3del
NM_001042682.2:c.1956+2_1956+3del
NM_012102.4:c.3618+2_3618+3del