Canonical Allele Identifier: CA804235678

Gene: PITX1

Linked Data

• dbSNP Id: rs1249199767
• gnomAD v3: 5-135031935-TCTC-T
• gnomAD v4: 5-135031935-TCTC-T
• MyVariant Identifiers: chr5:g.134367626_134367628del (hg19) ; chr5:g.135031936_135031938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031939_135031941del , CM000667.2:g.135031939_135031941del	GRCh38
NC_000005.9:g.134367629_134367631del , CM000667.1:g.134367629_134367631del	GRCh37
NC_000005.8:g.134395528_134395530del	NCBI36
NG_012114.1:g.7337_7339del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.170-430_170-428del MANE Select	ENSP00000265340.6:n.170-430_170-428del
ENST00000265340.11:c.170-430_170-428del	ENSP00000265340.6:n.170-430_170-428del
ENST00000502676.1:c.170-430_170-428del	ENSP00000423624.1:n.170-430_170-428del
ENST00000503586.1:c.292-430_292-428del
ENST00000504936.1:n.73_75del
ENST00000506438.5:c.170-430_170-428del	ENSP00000427542.1:n.170-430_170-428del
ENST00000507253.5:c.170-430_170-428del	ENSP00000422908.1:n.170-430_170-428del
NM_002653.4:c.170-430_170-428del	NP_002644.4:n.170-430_170-428del
NM_002653.5:c.170-430_170-428del MANE Select	NP_002644.4:n.170-430_170-428del