Canonical Allele Identifier: CA1370450

Gene: CR1

Linked Data

• dbSNP Id: rs541502141
• ExAC: 1:207785197 AGGTGCCTTGACTCTCTG / A
• gnomAD v2: 1-207785197-AGGTGCCTTGACTCTCTG-A
• gnomAD v3: 1-207611852-AGGTGCCTTGACTCTCTG-A
• gnomAD v4: 1-207611852-AGGTGCCTTGACTCTCTG-A
• MyVariant Identifiers: chr1:g.207785198_207785214del (hg19) ; chr1:g.207611853_207611869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207611854_207611870del , CM000663.2:g.207611854_207611870del	GRCh38
NC_000001.10:g.207785199_207785215del , CM000663.1:g.207785199_207785215del	GRCh37
NC_000001.9:g.205851822_205851838del	NCBI36
NG_007481.1:g.120727_120743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.6472+1_6472+17del
ENST00000367051.6:c.5122+1_5122+17del
ENST00000367052.6:c.5122+1_5122+17del
ENST00000367053.6:c.5122+1_5122+17del
ENST00000400960.7:c.5122+1_5122+17del
ENST00000367049.8:c.6472+1_6472+17del
ENST00000367051.5:c.5122+1_5122+17del
ENST00000367052.5:c.5122+1_5122+17del
ENST00000367053.5:c.5122+1_5122+17del
ENST00000400960.6:c.5122+1_5122+17del
ENST00000529814.1:c.1180-4721_1180-4705del
NM_000573.3:c.5122+1_5122+17del
NM_000651.4:c.6472+1_6472+17del
XM_006711166.2:c.6487+1_6487+17del
XM_011509205.1:c.6487+1_6487+17del
NM_000651.5:c.6472+1_6472+17del
XM_024453287.1:c.5137+1_5137+17del
NM_000573.4:c.5122+1_5122+17del
NM_000651.6:c.6472+1_6472+17del