Canonical Allele Identifier: CA528999306

Gene: CR1

Linked Data

• dbSNP Id: rs1271445777
• gnomAD v2: 1-207697242-AAATG-A
• gnomAD v4: 1-207523897-AAATG-A
• MyVariant Identifiers: chr1:g.207697243_207697246del (hg19) ; chr1:g.207523898_207523901del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523900_207523903del , CM000663.2:g.207523900_207523903del	GRCh38
NC_000001.10:g.207697245_207697248del , CM000663.1:g.207697245_207697248del	GRCh37
NC_000001.9:g.205763868_205763871del	NCBI36
NG_007481.1:g.32773_32776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.777_780del MANE Select	ENSP00000356016.4:p.Asn259LysfsTer13
ENST00000367051.6:c.487+12246_487+12249del	ENSP00000356018.1:n.487+12246_487+12249del
ENST00000367052.6:c.777_780del	ENSP00000356019.1:p.Asn259LysfsTer13
ENST00000367053.6:c.777_780del	ENSP00000356020.1:p.Asn259LysfsTer13
ENST00000400960.7:c.777_780del	ENSP00000383744.2:p.Asn259LysfsTer13
ENST00000367049.8:c.777_780del	ENSP00000356016.4:p.Asn259LysfsTer13
ENST00000367050.8:n.898_901del
ENST00000367051.5:c.487+12246_487+12249del	ENSP00000356018.1:n.487+12246_487+12249del
ENST00000367052.5:c.777_780del	ENSP00000356019.1:p.Asn259LysfsTer13
ENST00000367053.5:c.777_780del	ENSP00000356020.1:p.Asn259LysfsTer13
ENST00000400960.6:c.777_780del	ENSP00000383744.2:p.Asn259LysfsTer13
ENST00000434033.5:n.704_707del
ENST00000436595.1:n.414+12246_414+12249del
ENST00000450439.5:n.704_707del
ENST00000529814.1:c.704_707del
ENST00000534202.5:c.777_780del	ENSP00000436139.2:p.Asn259LysfsTer13
NM_000573.3:c.777_780del	NP_000564.2:p.Asn259LysfsTer13
NM_000651.4:c.777_780del	NP_000642.3:p.Asn259LysfsTer13
XM_006711166.2:c.792_795del	XP_006711229.1:p.Asn264LysfsTer13
XM_011509205.1:c.792_795del	XP_011507507.1:p.Asn264LysfsTer13
NM_000651.5:c.777_780del	NP_000642.3:p.Asn259LysfsTer13
XM_024453287.1:c.792_795del	XP_024309055.1:p.Asn264LysfsTer13
NM_000573.4:c.777_780del	NP_000564.2:p.Asn259LysfsTer13
NM_000651.6:c.777_780del MANE Select	NP_000642.3:p.Asn259LysfsTer13