Canonical Allele Identifier: CA730643067

Gene: CR1

Linked Data

• dbSNP Id: rs1361353676
• gnomAD v3: 1-207584200-GTATAA-G
• gnomAD v4: 1-207584200-GTATAA-G
• MyVariant Identifiers: chr1:g.207757546_207757550del (hg19) ; chr1:g.207584201_207584205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207584205_207584209del , CM000663.2:g.207584205_207584209del	GRCh38
NC_000001.10:g.207757550_207757554del , CM000663.1:g.207757550_207757554del	GRCh37
NC_000001.9:g.205824173_205824177del	NCBI36
NG_007481.1:g.93078_93082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367049.9:c.5303-444_5303-440del MANE Select	ENSP00000356016.4:n.5303-444_5303-440del
ENST00000367051.6:c.3953-444_3953-440del	ENSP00000356018.1:n.3953-444_3953-440del
ENST00000367052.6:c.3953-444_3953-440del	ENSP00000356019.1:n.3953-444_3953-440del
ENST00000367053.6:c.3953-444_3953-440del	ENSP00000356020.1:n.3953-444_3953-440del
ENST00000400960.7:c.3953-444_3953-440del	ENSP00000383744.2:n.3953-444_3953-440del
ENST00000367049.8:c.5303-444_5303-440del	ENSP00000356016.4:n.5303-444_5303-440del
ENST00000367051.5:c.3953-444_3953-440del	ENSP00000356018.1:n.3953-444_3953-440del
ENST00000367052.5:c.3953-444_3953-440del	ENSP00000356019.1:n.3953-444_3953-440del
ENST00000367053.5:c.3953-444_3953-440del	ENSP00000356020.1:n.3953-444_3953-440del
ENST00000400960.6:c.3953-444_3953-440del	ENSP00000383744.2:n.3953-444_3953-440del
ENST00000529814.1:c.1179+18282_1179+18286del
ENST00000534202.5:c.*1068-444_*1068-440del	ENSP00000436139.2:n.*1068-444_*1068-440del
NM_000573.3:c.3953-444_3953-440del	NP_000564.2:n.3953-444_3953-440del
NM_000651.4:c.5303-444_5303-440del	NP_000642.3:n.5303-444_5303-440del
XM_006711166.2:c.5318-444_5318-440del	XP_006711229.1:n.5318-444_5318-440del
XM_011509205.1:c.5318-444_5318-440del	XP_011507507.1:n.5318-444_5318-440del
NM_000651.5:c.5303-444_5303-440del	NP_000642.3:n.5303-444_5303-440del
XM_024453287.1:c.3968-444_3968-440del	XP_024309055.1:n.3968-444_3968-440del
NM_000573.4:c.3953-444_3953-440del	NP_000564.2:n.3953-444_3953-440del
NM_000651.6:c.5303-444_5303-440del MANE Select	NP_000642.3:n.5303-444_5303-440del