Canonical Allele Identifier: CA804235647

Gene: PITX1

Linked Data

• dbSNP Id: rs1204988805
• gnomAD v3: 5-135031829-T-TTTTG
• gnomAD v4: 5-135031829-T-TTTTG
• MyVariant Identifiers: chr5:g.134367519_134367520insTTTG (hg19) ; chr5:g.135031829_135031830insTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031841_135031844dup , CM000667.2:g.135031841_135031844dup	GRCh38
NC_000005.9:g.134367531_134367534dup , CM000667.1:g.134367531_134367534dup	GRCh37
NC_000005.8:g.134395430_134395433dup	NCBI36
NG_012114.1:g.7442_7445dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.170-325_170-322dup MANE Select	ENSP00000265340.6:n.170-325_170-322dup
ENST00000265340.11:c.170-325_170-322dup	ENSP00000265340.6:n.170-325_170-322dup
ENST00000502676.1:c.170-325_170-322dup	ENSP00000423624.1:n.170-325_170-322dup
ENST00000503586.1:c.292-325_292-322dup
ENST00000504936.1:n.178_181dup
ENST00000506438.5:c.170-325_170-322dup	ENSP00000427542.1:n.170-325_170-322dup
ENST00000507253.5:c.170-325_170-322dup	ENSP00000422908.1:n.170-325_170-322dup
NM_002653.4:c.170-325_170-322dup	NP_002644.4:n.170-325_170-322dup
NM_002653.5:c.170-325_170-322dup MANE Select	NP_002644.4:n.170-325_170-322dup