Canonical Allele Identifier: CA1127258

Gene: HAX1

Linked Data

• ClinVar Variation Id: 543082
• ClinVar RCV Id: RCV000653741 ; RCV000658524
• dbSNP Id: rs781468690
• ExAC: 1:154245874 A / AAGAAGG
• gnomAD v2: 1-154245874-A-AAGAAGG
• gnomAD v3: 1-154273398-A-AAGAAGG
• gnomAD v4: 1-154273398-A-AAGAAGG
• MyVariant Identifiers: chr1:g.154245875_154245880dup (hg19) ; chr1:g.154245874_154245875insAGAAGG (hg19) ; chr1:g.154273399_154273404dup (hg38) ; chr1:g.154273398_154273399insAGAAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154273399_154273404dup , CM000663.2:g.154273399_154273404dup	GRCh38
NC_000001.10:g.154245875_154245880dup , CM000663.1:g.154245875_154245880dup	GRCh37
NC_000001.9:g.152512499_152512504dup	NCBI36
NG_007369.1:g.5837_5842dup , LRG_64:g.5837_5842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435087.2:c.117_122dup	ENSP00000394920.2:p.Gly41_Gly42insGluGly
ENST00000447768.7:c.117_122dup	ENSP00000403848.2:p.Gly41_Gly42insGluGly
ENST00000459914.2:n.218_223dup
ENST00000471326.6:n.793_798dup
ENST00000477780.3:n.204_209dup
ENST00000483970.7:c.117_122dup	ENSP00000435088.1:p.Gly41_Gly42insGluGly
ENST00000531435.6:n.287_292dup
ENST00000696929.1:c.117_122dup	ENSP00000512978.1:p.Gly41_Gly42insGluGly
ENST00000696931.1:n.218_223dup
ENST00000696932.1:c.117_122dup	ENSP00000512979.1:p.Gly41_Gly42insGluGly
ENST00000696933.1:c.117_122dup	ENSP00000512980.1:p.Gly41_Gly42insGluGly
ENST00000696938.1:c.117_122dup	ENSP00000512983.1:p.Gly41_Gly42insGluGly
ENST00000696941.1:c.39_44dup	ENSP00000512986.1:p.Gly15_Gly16insGluGly
ENST00000696944.1:c.39_44dup	ENSP00000512989.1:p.Gly15_Gly16insGluGly
ENST00000696945.1:c.39_44dup	ENSP00000512990.1:p.Gly15_Gly16insGluGly
ENST00000696965.1:c.39_44dup	ENSP00000513004.1:p.Gly15_Gly16insGluGly
ENST00000696966.1:c.39_44dup	ENSP00000513005.1:p.Gly15_Gly16insGluGly
ENST00000697592.1:c.39_44dup	ENSP00000513356.1:p.Gly15_Gly16insGluGly
ENST00000697830.1:c.39_44dup	ENSP00000513452.1:p.Gly15_Gly16insGluGly
ENST00000328703.12:c.117_122dup MANE Select	ENSP00000329002.7:p.Gly41_Gly42insGluGly
ENST00000328703.11:c.117_122dup	ENSP00000329002.7:p.Gly41_Gly42insGluGly
ENST00000435087.1:c.117_122dup	ENSP00000394920.1:p.Gly41_Gly42insGluGly
ENST00000447768.6:c.117_122dup	ENSP00000403848.2:p.Gly41_Gly42insGluGly
ENST00000457918.6:c.54-81_54-76dup	ENSP00000411448.2:n.54-81_54-76dup
ENST00000471326.5:n.532_537dup
ENST00000477780.2:n.204_209dup
ENST00000483970.6:c.117_122dup	ENSP00000435088.1:p.Gly41_Gly42insGluGly
ENST00000531435.5:n.212_217dup
ENST00000532105.1:c.-68-375_-68-370dup	ENSP00000433951.1:n.-68-375_-68-370dup
NM_001018837.1:c.54-81_54-76dup	NP_001018238.1:n.54-81_54-76dup
NM_006118.3:c.117_122dup , LRG_64t1:c.117_122dup	NP_006109.2:p.Gly41_Gly42insGluGly
NM_001018837.2:c.54-81_54-76dup	NP_001018238.1:n.54-81_54-76dup
NM_006118.4:c.117_122dup MANE Select	NP_006109.2:p.Gly41_Gly42insGluGly