Canonical Allele Identifier: CA889562059
Gene: HAX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154273615_154273626del , CM000663.2:g.154273615_154273626del GRCh38
NC_000001.10:g.154246091_154246102del , CM000663.1:g.154246091_154246102del GRCh37
NC_000001.9:g.152512715_152512726del NCBI36
NG_007369.1:g.6053_6064del , LRG_64:g.6053_6064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435087.2:c.252+81_252+92del ENSP00000394920.2:n.252+81_252+92del
ENST00000447768.7:c.252+81_252+92del ENSP00000403848.2:n.252+81_252+92del
ENST00000459914.2:n.417+17_417+28del
ENST00000471326.6:n.992+17_992+28del
ENST00000477780.3:n.420_431del
ENST00000483970.7:c.316+17_316+28del ENSP00000435088.1:n.316+17_316+28del
ENST00000531435.6:n.503_514del
ENST00000696929.1:c.316+17_316+28del ENSP00000512978.1:n.316+17_316+28del
ENST00000696931.1:n.417+17_417+28del
ENST00000696932.1:c.316+17_316+28del ENSP00000512979.1:n.316+17_316+28del
ENST00000696933.1:c.316+17_316+28del ENSP00000512980.1:n.316+17_316+28del
ENST00000696938.1:c.316+17_316+28del ENSP00000512983.1:n.316+17_316+28del
ENST00000696941.1:c.238+17_238+28del ENSP00000512986.1:n.238+17_238+28del
ENST00000696944.1:c.238+17_238+28del ENSP00000512989.1:n.238+17_238+28del
ENST00000696945.1:c.238+17_238+28del ENSP00000512990.1:n.238+17_238+28del
ENST00000696965.1:c.238+17_238+28del ENSP00000513004.1:n.238+17_238+28del
ENST00000696966.1:c.174+81_174+92del ENSP00000513005.1:n.174+81_174+92del
ENST00000697592.1:c.238+17_238+28del ENSP00000513356.1:n.238+17_238+28del
ENST00000697830.1:c.238+17_238+28del ENSP00000513452.1:n.238+17_238+28del
ENST00000328703.12:c.316+17_316+28del MANE Select ENSP00000329002.7:n.316+17_316+28del
ENST00000328703.11:c.316+17_316+28del ENSP00000329002.7:n.316+17_316+28del
ENST00000435087.1:c.252+81_252+92del ENSP00000394920.1:n.252+81_252+92del
ENST00000447768.6:c.252+81_252+92del ENSP00000403848.2:n.252+81_252+92del
ENST00000457918.6:c.172+17_172+28del ENSP00000411448.2:n.172+17_172+28del
ENST00000471326.5:n.731+17_731+28del
ENST00000477780.2:n.420_431del
ENST00000483970.6:c.316+17_316+28del ENSP00000435088.1:n.316+17_316+28del
ENST00000531435.5:n.428_439del
ENST00000532105.1:c.-68-159_-68-148del ENSP00000433951.1:n.-68-159_-68-148del
NM_001018837.1:c.172+17_172+28del NP_001018238.1:n.172+17_172+28del
NM_006118.3:c.316+17_316+28del , LRG_64t1:c.316+17_316+28del NP_006109.2:n.316+17_316+28del
NM_001018837.2:c.172+17_172+28del NP_001018238.1:n.172+17_172+28del
NM_006118.4:c.316+17_316+28del MANE Select NP_006109.2:n.316+17_316+28del