Canonical Allele Identifier: CA2676108649

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151828923-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151828924_151828926del , CM000667.2:g.151828924_151828926del	GRCh38
NC_000005.9:g.151208485_151208487del , CM000667.1:g.151208485_151208487del	GRCh37
NC_000005.8:g.151188678_151188680del	NCBI36
NG_011764.1:g.100911_100913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1054_1056del MANE Select	ENSP00000274576.5:p.His352del
ENST00000274576.8:c.1054_1056del	ENSP00000274576.4:p.His352del
ENST00000455880.2:c.1054_1056del	ENSP00000411593.2:p.His352del
ENST00000462581.6:c.*812_*814del	ENSP00000430595.1:n.*812_*814del
NM_000171.3:c.1054_1056del	NP_000162.2:p.His352del
NM_001146040.1:c.1054_1056del	NP_001139512.1:p.His352del
NM_001292000.1:c.805_807del	NP_001278929.1:p.His269del
NM_000171.4:c.1054_1056del MANE Select	NP_000162.2:p.His352del
NM_001146040.2:c.1054_1056del	NP_001139512.1:p.His352del
NM_001292000.2:c.805_807del	NP_001278929.1:p.His269del