Canonical Allele Identifier: CA1584341325

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031009_135031019delinsGGGGCACAGGT , CM000667.2:g.135031009_135031019delinsGGGGCACAGGT	GRCh38
NC_000005.9:g.134366699_134366709delinsGGGGCACAGGT , CM000667.1:g.134366699_134366709delinsGGGGCACAGGT	GRCh37
NC_000005.8:g.134394598_134394608delinsGGGGCACAGGT	NCBI36
NG_012114.1:g.8256_8266delinsACCTGTGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+257_402+267delinsACCTGTGCCCC MANE Select	ENSP00000265340.6:n.402+257_402+267delinsACCTGTGCCCC
ENST00000265340.11:c.402+257_402+267delinsACCTGTGCCCC	ENSP00000265340.6:n.402+257_402+267delinsACCTGTGCCCC
ENST00000503586.1:c.524+257_524+267delinsACCTGTGCCCC
ENST00000504936.1:n.735+257_735+267delinsACCTGTGCCCC
ENST00000506438.5:c.402+257_402+267delinsACCTGTGCCCC	ENSP00000427542.1:n.402+257_402+267delinsACCTGTGCCCC
NM_002653.4:c.402+257_402+267delinsACCTGTGCCCC	NP_002644.4:n.402+257_402+267delinsACCTGTGCCCC
NM_002653.5:c.402+257_402+267delinsACCTGTGCCCC MANE Select	NP_002644.4:n.402+257_402+267delinsACCTGTGCCCC