Canonical Allele Identifier: CA6789433

Gene: PHETA1

Linked Data

• dbSNP Id: rs3840795
• ExAC: 12:111800826 TGCCACCCCC / T
• gnomAD v2: 12-111800826-TGCCACCCCC-T
• gnomAD v3: 12-111363022-TGCCACCCCC-T
• gnomAD v4: 12-111363022-TGCCACCCCC-T
• COSMIC: COSM430328 ; COSM430329 ; COSM1684344 ; COSM1684345 ; COSM4167607
• MyVariant Identifiers: chr12:g.111800832_111800840del (hg19) ; chr12:g.111800827_111800835del (hg19) ; chr12:g.111363024_111363032del (hg38) ; chr12:g.111363023_111363031del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111363028_111363036del , CM000674.2:g.111363028_111363036del	GRCh38
NC_000012.11:g.111800832_111800840del , CM000674.1:g.111800832_111800840del	GRCh37
NC_000012.10:g.110285215_110285223del	NCBI36
NG_021347.1:g.11091_11099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683047.1:c.397_405del MANE Select	ENSP00000507123.1:p.Gly133_Gly135del
ENST00000361483.4:c.436_444del	ENSP00000354461.3:p.Gly146_Gly148del
ENST00000547838.2:c.397_405del	ENSP00000447353.1:p.Gly133_Gly135del
ENST00000548163.1:c.397_405del	ENSP00000449994.1:p.Gly133_Gly135del
NM_001177996.1:c.436_444del	NP_001171467.1:p.Gly146_Gly148del
NM_001177997.1:c.397_405del	NP_001171468.1:p.Gly133_Gly135del
NM_144671.4:c.397_405del	NP_653272.2:p.Gly133_Gly135del
XM_006719257.2:c.397_405del	XP_006719320.1:p.Gly133_Gly135del
XM_011537976.1:c.397_405del	XP_011536278.1:p.Gly133_Gly135del
XM_006719257.3:c.397_405del	XP_006719320.1:p.Gly133_Gly135del
XM_011537976.2:c.397_405del	XP_011536278.1:p.Gly133_Gly135del
XM_017018883.1:c.397_405del	XP_016874372.1:p.Gly133_Gly135del
NM_001177996.2:c.436_444del	NP_001171467.1:p.Gly146_Gly148del
NM_001177997.2:c.397_405del	NP_001171468.1:p.Gly133_Gly135del
NM_144671.5:c.397_405del	NP_653272.2:p.Gly133_Gly135del
NM_001177996.3:c.436_444del	NP_001171467.1:p.Gly146_Gly148del
NM_001177997.3:c.397_405del	NP_001171468.1:p.Gly133_Gly135del
NM_144671.6:c.397_405del MANE Select	NP_653272.2:p.Gly133_Gly135del