Canonical Allele Identifier: CA2244625105

Linked Data

dbSNP Id: rs1970354466

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932364_4932367del , CM000679.2:g.4932364_4932367del GRCh38
NC_000017.10:g.4835659_4835662del , CM000679.1:g.4835659_4835662del GRCh37
NC_000017.9:g.4776439_4776442del NCBI36
NG_008767.2:g.5070_5073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-8_-7+2del (GP1BA)
ENST00000649830.1:c.-888+1975_-888+1978del (CHRNE) ENSP00000496907.1:n.-888+1975_-888+1978del
ENST00000329125.5:c.-8_-7+2del (GP1BA)
ENST00000611961.1:c.-8_-7+2del (GP1BA)
NM_000173.6:c.-8_-7+2del (GP1BA)
NM_000173.7:c.-8_-7+2del (GP1BA)