Canonical Allele Identifier: CA1127248

Gene: HAX1

Linked Data

• ClinVar Variation Id: 543081
• ClinVar RCV Id: RCV000653740
• dbSNP Id: rs560912060
• ExAC: 1:154245851 AGAT / A
• gnomAD v2: 1-154245851-AGAT-A
• gnomAD v3: 1-154273375-AGAT-A
• gnomAD v4: 1-154273375-AGAT-A
• MyVariant Identifiers: chr1:g.154245860_154245862del (hg19) ; chr1:g.154245852_154245854del (hg19) ; chr1:g.154273384_154273386del (hg38) ; chr1:g.154273377_154273379del (hg38) ; chr1:g.154273376_154273378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154273384_154273386del , CM000663.2:g.154273384_154273386del	GRCh38
NC_000001.10:g.154245860_154245862del , CM000663.1:g.154245860_154245862del	GRCh37
NC_000001.9:g.152512484_152512486del	NCBI36
NG_007369.1:g.5822_5824del , LRG_64:g.5822_5824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435087.2:c.102_104del	ENSP00000394920.2:p.Asp34del
ENST00000447768.7:c.102_104del	ENSP00000403848.2:p.Asp34del
ENST00000459914.2:n.203_205del
ENST00000471326.6:n.778_780del
ENST00000477780.3:n.189_191del
ENST00000483970.7:c.102_104del	ENSP00000435088.1:p.Asp34del
ENST00000531435.6:n.272_274del
ENST00000696929.1:c.102_104del	ENSP00000512978.1:p.Asp34del
ENST00000696931.1:n.203_205del
ENST00000696932.1:c.102_104del	ENSP00000512979.1:p.Asp34del
ENST00000696933.1:c.102_104del	ENSP00000512980.1:p.Asp34del
ENST00000696938.1:c.102_104del	ENSP00000512983.1:p.Asp34del
ENST00000696941.1:c.24_26del	ENSP00000512986.1:p.Asp8del
ENST00000696944.1:c.24_26del	ENSP00000512989.1:p.Asp8del
ENST00000696945.1:c.24_26del	ENSP00000512990.1:p.Asp8del
ENST00000696965.1:c.24_26del	ENSP00000513004.1:p.Asp8del
ENST00000696966.1:c.24_26del	ENSP00000513005.1:p.Asp8del
ENST00000697592.1:c.24_26del	ENSP00000513356.1:p.Asp8del
ENST00000697830.1:c.24_26del	ENSP00000513452.1:p.Asp8del
ENST00000328703.12:c.102_104del MANE Select	ENSP00000329002.7:p.Asp34del
ENST00000328703.11:c.102_104del	ENSP00000329002.7:p.Asp34del
ENST00000435087.1:c.102_104del	ENSP00000394920.1:p.Asp34del
ENST00000447768.6:c.102_104del	ENSP00000403848.2:p.Asp34del
ENST00000457918.6:c.54-96_54-94del	ENSP00000411448.2:n.54-96_54-94del
ENST00000471326.5:n.517_519del
ENST00000477780.2:n.189_191del
ENST00000483970.6:c.102_104del	ENSP00000435088.1:p.Asp34del
ENST00000531435.5:n.197_199del
ENST00000532105.1:c.-68-390_-68-388del	ENSP00000433951.1:n.-68-390_-68-388del
NM_001018837.1:c.54-96_54-94del	NP_001018238.1:n.54-96_54-94del
NM_006118.3:c.102_104del , LRG_64t1:c.102_104del	NP_006109.2:p.Asp34del
NM_001018837.2:c.54-96_54-94del	NP_001018238.1:n.54-96_54-94del
NM_006118.4:c.102_104del MANE Select	NP_006109.2:p.Asp34del