Canonical Allele Identifier: CA2747512771

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523839_207523840insTGA , CM000663.2:g.207523839_207523840insTGA	GRCh38
NC_000001.10:g.207697184_207697185insTGA , CM000663.1:g.207697184_207697185insTGA	GRCh37
NC_000001.9:g.205763807_205763808insTGA	NCBI36
NG_007481.1:g.32712_32713insTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.716_717insTGA MANE Select	ENSP00000356016.4:p.Thr239_Pro240insGlu
ENST00000367051.6:c.487+12185_487+12186insTGA	ENSP00000356018.1:n.487+12185_487+12186insTGA
ENST00000367052.6:c.716_717insTGA	ENSP00000356019.1:p.Thr239_Pro240insGlu
ENST00000367053.6:c.716_717insTGA	ENSP00000356020.1:p.Thr239_Pro240insGlu
ENST00000400960.7:c.716_717insTGA	ENSP00000383744.2:p.Thr239_Pro240insGlu
ENST00000367049.8:c.716_717insTGA	ENSP00000356016.4:p.Thr239_Pro240insGlu
ENST00000367050.8:n.837_838insTGA
ENST00000367051.5:c.487+12185_487+12186insTGA	ENSP00000356018.1:n.487+12185_487+12186insTGA
ENST00000367052.5:c.716_717insTGA	ENSP00000356019.1:p.Thr239_Pro240insGlu
ENST00000367053.5:c.716_717insTGA	ENSP00000356020.1:p.Thr239_Pro240insGlu
ENST00000400960.6:c.716_717insTGA	ENSP00000383744.2:p.Thr239_Pro240insGlu
ENST00000434033.5:n.643_644insTGA
ENST00000436595.1:n.414+12185_414+12186insTGA
ENST00000450439.5:n.643_644insTGA
ENST00000529814.1:c.643_644insTGA
ENST00000534202.5:c.716_717insTGA	ENSP00000436139.2:p.Thr239_Pro240insGlu
NM_000573.3:c.716_717insTGA	NP_000564.2:p.Thr239_Pro240insGlu
NM_000651.4:c.716_717insTGA	NP_000642.3:p.Thr239_Pro240insGlu
XM_006711166.2:c.731_732insTGA	XP_006711229.1:p.Thr244_Pro245insGlu
XM_011509205.1:c.731_732insTGA	XP_011507507.1:p.Thr244_Pro245insGlu
NM_000651.5:c.716_717insTGA	NP_000642.3:p.Thr239_Pro240insGlu
XM_024453287.1:c.731_732insTGA	XP_024309055.1:p.Thr244_Pro245insGlu
NM_000573.4:c.716_717insTGA	NP_000564.2:p.Thr239_Pro240insGlu
NM_000651.6:c.716_717insTGA MANE Select	NP_000642.3:p.Thr239_Pro240insGlu