Canonical Allele Identifier: CA1127253

Gene: HAX1

Linked Data

• ClinVar Variation Id: 435393
• ClinVar RCV Id: RCV000501295 ; RCV000889401
• dbSNP Id: rs753894148
• ExAC: 1:154245863 GGAA / G
• gnomAD v2: 1-154245863-GGAA-G
• gnomAD v3: 1-154273387-GGAA-G
• gnomAD v4: 1-154273387-GGAA-G
• COSMIC: COSM1745034 ; COSM4993618
• MyVariant Identifiers: chr1:g.154245877_154245879del (hg19) ; chr1:g.154245867_154245869del (hg19) ; chr1:g.154245864_154245866del (hg19) ; chr1:g.154273401_154273403del (hg38) ; chr1:g.154273391_154273393del (hg38) ; chr1:g.154273389_154273391del (hg38) ; chr1:g.154273388_154273390del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154273401_154273403del , CM000663.2:g.154273401_154273403del	GRCh38
NC_000001.10:g.154245877_154245879del , CM000663.1:g.154245877_154245879del	GRCh37
NC_000001.9:g.152512501_152512503del	NCBI36
NG_007369.1:g.5839_5841del , LRG_64:g.5839_5841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435087.2:c.119_121del	ENSP00000394920.2:p.Glu40del
ENST00000447768.7:c.119_121del	ENSP00000403848.2:p.Glu40del
ENST00000459914.2:n.220_222del
ENST00000471326.6:n.795_797del
ENST00000477780.3:n.206_208del
ENST00000483970.7:c.119_121del	ENSP00000435088.1:p.Glu40del
ENST00000531435.6:n.289_291del
ENST00000696929.1:c.119_121del	ENSP00000512978.1:p.Glu40del
ENST00000696931.1:n.220_222del
ENST00000696932.1:c.119_121del	ENSP00000512979.1:p.Glu40del
ENST00000696933.1:c.119_121del	ENSP00000512980.1:p.Glu40del
ENST00000696938.1:c.119_121del	ENSP00000512983.1:p.Glu40del
ENST00000696941.1:c.41_43del	ENSP00000512986.1:p.Glu14del
ENST00000696944.1:c.41_43del	ENSP00000512989.1:p.Glu14del
ENST00000696945.1:c.41_43del	ENSP00000512990.1:p.Glu14del
ENST00000696965.1:c.41_43del	ENSP00000513004.1:p.Glu14del
ENST00000696966.1:c.41_43del	ENSP00000513005.1:p.Glu14del
ENST00000697592.1:c.41_43del	ENSP00000513356.1:p.Glu14del
ENST00000697830.1:c.41_43del	ENSP00000513452.1:p.Glu14del
ENST00000328703.12:c.119_121del MANE Select	ENSP00000329002.7:p.Glu40del
ENST00000328703.11:c.119_121del	ENSP00000329002.7:p.Glu40del
ENST00000435087.1:c.119_121del	ENSP00000394920.1:p.Glu40del
ENST00000447768.6:c.119_121del	ENSP00000403848.2:p.Glu40del
ENST00000457918.6:c.54-79_54-77del	ENSP00000411448.2:n.54-79_54-77del
ENST00000471326.5:n.534_536del
ENST00000477780.2:n.206_208del
ENST00000483970.6:c.119_121del	ENSP00000435088.1:p.Glu40del
ENST00000531435.5:n.214_216del
ENST00000532105.1:c.-68-373_-68-371del	ENSP00000433951.1:n.-68-373_-68-371del
NM_001018837.1:c.54-79_54-77del	NP_001018238.1:n.54-79_54-77del
NM_006118.3:c.119_121del , LRG_64t1:c.119_121del	NP_006109.2:p.Glu40del
NM_001018837.2:c.54-79_54-77del	NP_001018238.1:n.54-79_54-77del
NM_006118.4:c.119_121del MANE Select	NP_006109.2:p.Glu40del