Canonical Allele Identifier: CA2635579356

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4934060-TCACTCTTAGAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4934064_4934076del , CM000679.2:g.4934064_4934076del	GRCh38
NC_000017.10:g.4837359_4837371del , CM000679.1:g.4837359_4837371del	GRCh37
NC_000017.9:g.4778100_4778112del	NCBI36
NG_008767.2:g.6770_6782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1460_1472del (GP1BA) MANE Select	ENSP00000329380.5:p.Leu487ProfsTer?
ENST00000649830.1:c.-888+269_-888+281del (CHRNE)	ENSP00000496907.1:n.-888+269_-888+281del
ENST00000329125.5:c.1460_1472del (GP1BA)	ENSP00000329380.5:p.Leu487ProfsTer?
ENST00000611961.1:c.1382_1394del (GP1BA)	ENSP00000484439.1:p.Leu461ProfsTer?
NM_000173.6:c.1460_1472del (GP1BA)	NP_000164.5:p.Leu487ProfsTer?
NM_000173.7:c.1460_1472del (GP1BA) MANE Select	NP_000164.5:p.Leu487ProfsTer?