Canonical Allele Identifier: CA980972126

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs1970383359
• gnomAD v3: 17-4933925-TCAGAGCC-T
• gnomAD v4: 17-4933925-TCAGAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933927_4933933del , CM000679.2:g.4933927_4933933del	GRCh38
NC_000017.10:g.4837222_4837228del , CM000679.1:g.4837222_4837228del	GRCh37
NC_000017.9:g.4777963_4777969del	NCBI36
NG_008767.2:g.6633_6639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1323_1329del (GP1BA) MANE Select	ENSP00000329380.5:p.Glu442ProfsTer28
ENST00000649830.1:c.-888+410_-888+416del (CHRNE)	ENSP00000496907.1:n.-888+410_-888+416del
ENST00000329125.5:c.1323_1329del (GP1BA)	ENSP00000329380.5:p.Glu442ProfsTer28
ENST00000611961.1:c.1273-28_1273-22del (GP1BA)	ENSP00000484439.1:n.1273-28_1273-22del
NM_000173.6:c.1323_1329del (GP1BA)	NP_000164.5:p.Glu442ProfsTer28
NM_000173.7:c.1323_1329del (GP1BA) MANE Select	NP_000164.5:p.Glu442ProfsTer28