Canonical Allele Identifier: CA3417651
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs780678961
ExAC: 5:134367103 GCTT / G
gnomAD v2: 5-134367103-GCTT-G
gnomAD v3: 5-135031413-GCTT-G
gnomAD v4: 5-135031413-GCTT-G
COSMIC: COSM5197458
MyVariant Identifiers: chr5:g.134367104_134367106del (hg19) chr5:g.135031415_135031417del (hg38) chr5:g.135031414_135031416del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031423_135031425del , CM000667.2:g.135031423_135031425del GRCh38
NC_000005.9:g.134367113_134367115del , CM000667.1:g.134367113_134367115del GRCh37
NC_000005.8:g.134395012_134395014del NCBI36
NG_012114.1:g.7859_7861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.262_264del MANE Select ENSP00000265340.6:p.Lys88del
ENST00000265340.11:c.262_264del ENSP00000265340.6:p.Lys88del
ENST00000502676.1:c.262_264del ENSP00000423624.1:p.Lys88del
ENST00000503586.1:c.384_386del
ENST00000504936.1:n.595_597del
ENST00000506438.5:c.262_264del ENSP00000427542.1:p.Lys88del
ENST00000507253.5:c.262_264del ENSP00000422908.1:p.Lys88del
NM_002653.4:c.262_264del NP_002644.4:p.Lys88del
NM_002653.5:c.262_264del MANE Select NP_002644.4:p.Lys88del
Search 100 bp 5'
Search 100 bp 3'