Canonical Allele Identifier: CA913187424
Gene: HAX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154273412_154273413insA , CM000663.2:g.154273412_154273413insA GRCh38
NC_000001.10:g.154245888_154245889insA , CM000663.1:g.154245888_154245889insA GRCh37
NC_000001.9:g.152512512_152512513insA NCBI36
NG_007369.1:g.5850_5851insA , LRG_64:g.5850_5851insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000435087.2:c.130_131insA ENSP00000394920.2:p.Trp44Ter
ENST00000447768.7:c.130_131insA ENSP00000403848.2:p.Trp44Ter
ENST00000459914.2:n.231_232insA
ENST00000471326.6:n.806_807insA
ENST00000477780.3:n.217_218insA
ENST00000483970.7:c.130_131insA ENSP00000435088.1:p.Trp44Ter
ENST00000531435.6:n.300_301insA
ENST00000696929.1:c.130_131insA ENSP00000512978.1:p.Trp44Ter
ENST00000696931.1:n.231_232insA
ENST00000696932.1:c.130_131insA ENSP00000512979.1:p.Trp44Ter
ENST00000696933.1:c.130_131insA ENSP00000512980.1:p.Trp44Ter
ENST00000696938.1:c.130_131insA ENSP00000512983.1:p.Trp44Ter
ENST00000696941.1:c.52_53insA ENSP00000512986.1:p.Trp18Ter
ENST00000696944.1:c.52_53insA ENSP00000512989.1:p.Trp18Ter
ENST00000696945.1:c.52_53insA ENSP00000512990.1:p.Trp18Ter
ENST00000696965.1:c.52_53insA ENSP00000513004.1:p.Trp18Ter
ENST00000696966.1:c.52_53insA ENSP00000513005.1:p.Trp18Ter
ENST00000697592.1:c.52_53insA ENSP00000513356.1:p.Trp18Ter
ENST00000697830.1:c.52_53insA ENSP00000513452.1:p.Trp18Ter
ENST00000328703.12:c.130_131insA MANE Select ENSP00000329002.7:p.Trp44Ter
ENST00000328703.11:c.130_131insA ENSP00000329002.7:p.Trp44Ter
ENST00000435087.1:c.130_131insA ENSP00000394920.1:p.Trp44Ter
ENST00000447768.6:c.130_131insA ENSP00000403848.2:p.Trp44Ter
ENST00000457918.6:c.54-68_54-67insA ENSP00000411448.2:n.54-68_54-67insA
ENST00000471326.5:n.545_546insA
ENST00000477780.2:n.217_218insA
ENST00000483970.6:c.130_131insA ENSP00000435088.1:p.Trp44Ter
ENST00000531435.5:n.225_226insA
ENST00000532105.1:c.-68-362_-68-361insA ENSP00000433951.1:n.-68-362_-68-361insA
NM_001018837.1:c.54-68_54-67insA NP_001018238.1:n.54-68_54-67insA
NM_006118.3:c.130_131insA , LRG_64t1:c.130_131insA NP_006109.2:p.Trp44Ter
NM_001018837.2:c.54-68_54-67insA NP_001018238.1:n.54-68_54-67insA
NM_006118.4:c.130_131insA MANE Select NP_006109.2:p.Trp44Ter