Canonical Allele Identifier: CA2635579078

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4933861-CAGCCCGACCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933862_4933871del , CM000679.2:g.4933862_4933871del	GRCh38
NC_000017.10:g.4837157_4837166del , CM000679.1:g.4837157_4837166del	GRCh37
NC_000017.9:g.4777937_4777946del	NCBI36
NG_008767.2:g.6568_6577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1258_1267del (GP1BA) MANE Select	ENSP00000329380.5:p.Ser420ProfsTer?
ENST00000649830.1:c.-888+471_-888+480del (CHRNE)	ENSP00000496907.1:n.-888+471_-888+480del
ENST00000329125.5:c.1258_1267del (GP1BA)	ENSP00000329380.5:p.Ser420ProfsTer?
ENST00000611961.1:c.1258_1267del (GP1BA)	ENSP00000484439.1:p.Ser420ProfsTer23
NM_000173.6:c.1258_1267del (GP1BA)	NP_000164.5:p.Ser420ProfsTer?
NM_000173.7:c.1258_1267del (GP1BA) MANE Select	NP_000164.5:p.Ser420ProfsTer?