Canonical Allele Identifier: CA1188034834

Gene: CELSR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109263859_109263909delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA , CM000663.2:g.109263859_109263909delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA	GRCh38
NC_000001.10:g.109806481_109806531delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA , CM000663.1:g.109806481_109806531delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA	GRCh37
NC_000001.9:g.109608004_109608054delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA	NCBI36
NG_052669.1:g.19155_19205delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA MANE Select	ENSP00000271332.3:n.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTG...
ENST00000271332.3:c.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA	ENSP00000271332.3:n.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTG...
NM_001408.2:c.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA	NP_001399.1:n.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACA...
XM_005270580.3:c.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA	XP_005270637.1:n.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGG...
NM_001408.3:c.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA MANE Select	NP_001399.1:n.5001+82_5001+132delinsCAGGTCCTGGGCAGGGGTGGGGACA...