Canonical Allele Identifier: CA954573093

Gene: ALOX5AP

Linked Data

• dbSNP Id: rs1951737504
• gnomAD v3: 13-30738452-TGAGAAAAGAAAGGCTTTATTGCAAGGCTGGCCAGCAAGGAGACAGGAGTTGGGCTC-T
• gnomAD v4: 13-30738452-TGAGAAAAGAAAGGCTTTATTGCAAGGCTGGCCAGCAAGGAGACAGGAGTTGGGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30738453_30738508del , CM000675.2:g.30738453_30738508del	GRCh38
NC_000013.10:g.31312590_31312645del , CM000675.1:g.31312590_31312645del	GRCh37
NC_000013.9:g.30210590_30210645del	NCBI36
NG_011963.2:g.29976_30031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380490.5:c.70+2778_70+2833del MANE Select	ENSP00000369858.3:n.70+2778_70+2833del
ENST00000380490.4:c.70+2778_70+2833del	ENSP00000369858.3:n.70+2778_70+2833del
ENST00000617770.4:c.241+2778_241+2833del	ENSP00000479870.1:n.241+2778_241+2833del
NM_001204406.1:c.241+2778_241+2833del	NP_001191335.1:n.241+2778_241+2833del
NM_001629.3:c.70+2778_70+2833del	NP_001620.2:n.70+2778_70+2833del
XM_011535024.1:c.70+2778_70+2833del	XP_011533326.1:n.70+2778_70+2833del
NM_001204406.2:c.241+2778_241+2833del	NP_001191335.1:n.241+2778_241+2833del
NM_001629.4:c.70+2778_70+2833del MANE Select	NP_001620.2:n.70+2778_70+2833del