Canonical Allele Identifier: CA3523760

Gene: GLRA1

Linked Data

• dbSNP Id: rs748067912
• ExAC: 5:151271842 CTGT / C
• gnomAD v2: 5-151271842-CTGT-C
• gnomAD v3: 5-151892281-CTGT-C
• gnomAD v4: 5-151892281-CTGT-C
• MyVariant Identifiers: chr5:g.151271843_151271845del (hg19) ; chr5:g.151892282_151892284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151892282_151892284del , CM000667.2:g.151892282_151892284del	GRCh38
NC_000005.9:g.151271843_151271845del , CM000667.1:g.151271843_151271845del	GRCh37
NC_000005.8:g.151252036_151252038del	NCBI36
NG_011764.1:g.37553_37555del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.184+27_184+29del MANE Select	ENSP00000274576.5:n.184+27_184+29del
ENST00000274576.8:c.184+27_184+29del	ENSP00000274576.4:n.184+27_184+29del
ENST00000455880.2:c.184+27_184+29del	ENSP00000411593.2:n.184+27_184+29del
ENST00000462581.6:c.57-5496_57-5494del	ENSP00000430595.1:n.57-5496_57-5494del
ENST00000471351.2:n.467+27_467+29del
NM_000171.3:c.184+27_184+29del	NP_000162.2:n.184+27_184+29del
NM_001146040.1:c.184+27_184+29del	NP_001139512.1:n.184+27_184+29del
NM_001292000.1:c.-65-5496_-65-5494del	NP_001278929.1:n.-65-5496_-65-5494del
XM_005268412.2:c.184+27_184+29del	XP_005268469.1:n.184+27_184+29del
XR_002956230.1:n.3186_3188del
NM_000171.4:c.184+27_184+29del MANE Select	NP_000162.2:n.184+27_184+29del
NM_001146040.2:c.184+27_184+29del	NP_001139512.1:n.184+27_184+29del
NM_001292000.2:c.-65-5496_-65-5494del	NP_001278929.1:n.-65-5496_-65-5494del