Canonical Allele Identifier: CA8314809
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs749267498
ExAC: 17:4836531 A / ACCT
gnomAD v2: 17-4836531-A-ACCT
gnomAD v3: 17-4933236-A-ACCT
gnomAD v4: 17-4933236-A-ACCT
MyVariant Identifiers: chr17:g.4836531_4836532insCCT (hg19) chr17:g.4933236_4933237insCCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933240_4933242dup , CM000679.2:g.4933240_4933242dup GRCh38
NC_000017.10:g.4836535_4836537dup , CM000679.1:g.4836535_4836537dup GRCh37
NC_000017.9:g.4777315_4777317dup NCBI36
NG_008767.2:g.5946_5948dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.636_638dup (GP1BA) MANE Select ENSP00000329380.5:p.Leu213_Pro214insLeu
ENST00000649830.1:c.-888+1103_-888+1105dup (CHRNE) ENSP00000496907.1:n.-888+1103_-888+1105dup
ENST00000329125.5:c.636_638dup (GP1BA) ENSP00000329380.5:p.Leu213_Pro214insLeu
ENST00000611961.1:c.636_638dup (GP1BA) ENSP00000484439.1:p.Leu213_Pro214insLeu
NM_000173.6:c.636_638dup (GP1BA) NP_000164.5:p.Leu213_Pro214insLeu
NM_000173.7:c.636_638dup (GP1BA) MANE Select NP_000164.5:p.Leu213_Pro214insLeu
Search 100 bp 5'
Search 100 bp 3'