Canonical Allele Identifier: CA2740218773

Gene: CR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207523701_207523702insAC , CM000663.2:g.207523701_207523702insAC	GRCh38
NC_000001.10:g.207697046_207697047insAC , CM000663.1:g.207697046_207697047insAC	GRCh37
NC_000001.9:g.205763669_205763670insAC	NCBI36
NG_007481.1:g.32574_32575insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.578_579insAC MANE Select	ENSP00000356016.4:p.Tyr193Ter
ENST00000367051.6:c.487+12047_487+12048insAC	ENSP00000356018.1:n.487+12047_487+12048insAC
ENST00000367052.6:c.578_579insAC	ENSP00000356019.1:p.Tyr193Ter
ENST00000367053.6:c.578_579insAC	ENSP00000356020.1:p.Tyr193Ter
ENST00000400960.7:c.578_579insAC	ENSP00000383744.2:p.Tyr193Ter
ENST00000367049.8:c.578_579insAC	ENSP00000356016.4:p.Tyr193Ter
ENST00000367050.8:n.699_700insAC
ENST00000367051.5:c.487+12047_487+12048insAC	ENSP00000356018.1:n.487+12047_487+12048insAC
ENST00000367052.5:c.578_579insAC	ENSP00000356019.1:p.Tyr193Ter
ENST00000367053.5:c.578_579insAC	ENSP00000356020.1:p.Tyr193Ter
ENST00000400960.6:c.578_579insAC	ENSP00000383744.2:p.Tyr193Ter
ENST00000434033.5:n.505_506insAC
ENST00000436595.1:n.414+12047_414+12048insAC
ENST00000450439.5:n.505_506insAC
ENST00000529814.1:c.505_506insAC
ENST00000534202.5:c.578_579insAC	ENSP00000436139.2:p.Tyr193Ter
NM_000573.3:c.578_579insAC	NP_000564.2:p.Tyr193Ter
NM_000651.4:c.578_579insAC	NP_000642.3:p.Tyr193Ter
XM_006711166.2:c.593_594insAC	XP_006711229.1:p.Tyr198Ter
XM_011509205.1:c.593_594insAC	XP_011507507.1:p.Tyr198Ter
NM_000651.5:c.578_579insAC	NP_000642.3:p.Tyr193Ter
XM_024453287.1:c.593_594insAC	XP_024309055.1:p.Tyr198Ter
NM_000573.4:c.578_579insAC	NP_000564.2:p.Tyr193Ter
NM_000651.6:c.578_579insAC MANE Select	NP_000642.3:p.Tyr193Ter