Canonical Allele Identifier: CA900633017

Gene: CLRN1

Linked Data

• dbSNP Id: rs1208666981
• MyVariant Identifiers: chr3:g.150658432_150658444del (hg19) ; chr3:g.150940645_150940657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940646_150940658del , CM000665.2:g.150940646_150940658del	GRCh38
NC_000003.11:g.150658433_150658445del , CM000665.1:g.150658433_150658445del	GRCh37
NC_000003.10:g.152141123_152141135del	NCBI36
NG_009168.1:g.37343_37355del , LRG_700:g.37343_37355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+925_433+937del MANE Select	ENSP00000322280.1:n.433+925_433+937del
ENST00000468836.2:c.581+925_581+937del	ENSP00000419892.2:n.581+925_581+937del
ENST00000644099.1:c.426-138_426-126del	ENSP00000494762.1:n.426-138_426-126del
ENST00000295911.6:c.205+925_205+937del	ENSP00000295911.2:n.205+925_205+937del
ENST00000327047.5:c.433+925_433+937del	ENSP00000322280.1:n.433+925_433+937del
ENST00000328863.8:c.434-138_434-126del	ENSP00000329158.4:n.434-138_434-126del
ENST00000468836.1:c.205+925_205+937del	ENSP00000419892.1:n.205+925_205+937del
ENST00000485607.1:c.97+925_97+937del	ENSP00000419244.1:n.97+925_97+937del
ENST00000562308.5:c.104+925_104+937del
ENST00000565169.1:c.162+925_162+937del
ENST00000569170.5:c.162+925_162+937del
NM_001195794.1:c.434-138_434-126del , LRG_700t1:c.434-138_434-126del	NP_001182723.1:n.434-138_434-126del
NM_001256819.1:c.*47+925_*47+937del	NP_001243748.1:n.*47+925_*47+937del
NM_052995.2:c.205+925_205+937del , LRG_700t2:c.205+925_205+937del	NP_443721.1:n.205+925_205+937del
NM_174878.2:c.433+925_433+937del	NP_777367.1:n.433+925_433+937del
NR_046380.2:n.876-138_876-126del
XR_924167.1:n.745+925_745+937del
NM_001256819.2:c.*47+925_*47+937del	NP_001243748.1:n.*47+925_*47+937del
NM_174878.3:c.433+925_433+937del MANE Select	NP_777367.1:n.433+925_433+937del
NR_046380.3:n.604-138_604-126del