Canonical Allele Identifier: CA2590374215

Gene: GAS7

Linked Data

• dbSNP Id: rs2142083650
• gnomAD v3: 17-10127869-CAAAGATCTGAGCAA-C
• gnomAD v4: 17-10127869-CAAAGATCTGAGCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10127871_10127884del , CM000679.2:g.10127871_10127884del	GRCh38
NC_000017.10:g.10031188_10031201del , CM000679.1:g.10031188_10031201del	GRCh37
NC_000017.9:g.9971913_9971926del	NCBI36
NG_029502.1:g.75669_75682del
NG_029502.2:g.75669_75682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432992.7:c.183+70325_183+70338del MANE Select	ENSP00000407552.2:n.183+70325_183+70338del
ENST00000432992.6:c.183+70325_183+70338del	ENSP00000407552.2:n.183+70325_183+70338del
NM_201433.1:c.183+70325_183+70338del	NP_958839.1:n.183+70325_183+70338del
NM_201433.2:c.183+70325_183+70338del MANE Select	NP_958839.1:n.183+70325_183+70338del