Canonical Allele Identifier: CA1081832609

Gene: PITX1

Linked Data

• gnomAD v3: 5-135031164-G-GCCGTATCATTAAAAAA
• gnomAD v4: 5-135031164-G-GCCGTATCATTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031164_135031165insCCGTATCATTAAAAAA , CM000667.2:g.135031164_135031165insCCGTATCATTAAAAAA	GRCh38
NC_000005.9:g.134366854_134366855insCCGTATCATTAAAAAA , CM000667.1:g.134366854_134366855insCCGTATCATTAAAAAA	GRCh37
NC_000005.8:g.134394753_134394754insCCGTATCATTAAAAAA	NCBI36
NG_012114.1:g.8110_8111insTTTTTTAATGATACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+111_402+112insTTTTTTAATGATACGG MANE Select	ENSP00000265340.6:n.402+111_402+112insTTTTTTAATGATACGG
ENST00000265340.11:c.402+111_402+112insTTTTTTAATGATACGG	ENSP00000265340.6:n.402+111_402+112insTTTTTTAATGATACGG
ENST00000503586.1:c.524+111_524+112insTTTTTTAATGATACGG
ENST00000504936.1:n.735+111_735+112insTTTTTTAATGATACGG
ENST00000506438.5:c.402+111_402+112insTTTTTTAATGATACGG	ENSP00000427542.1:n.402+111_402+112insTTTTTTAATGATACGG
NM_002653.4:c.402+111_402+112insTTTTTTAATGATACGG	NP_002644.4:n.402+111_402+112insTTTTTTAATGATACGG
NM_002653.5:c.402+111_402+112insTTTTTTAATGATACGG MANE Select	NP_002644.4:n.402+111_402+112insTTTTTTAATGATACGG