Canonical Allele Identifier: CA1584341543

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031220_135031254delinsGAGGCGGCCCGGGAGCCCTCTGCGCGGGTGCCCTT , CM000667.2:g.135031220_135031254delinsGAGGCGGCCCGGGAGCCCTCTGCGCGGGTGCCCTT	GRCh38
NC_000005.9:g.134366910_134366944delinsGAGGCGGCCCGGGAGCCCTCTGCGCGGGTGCCCTT , CM000667.1:g.134366910_134366944delinsGAGGCGGCCCGGGAGCCCTCTGCGCGGGTGCCCTT	GRCh37
NC_000005.8:g.134394809_134394843delinsGAGGCGGCCCGGGAGCCCTCTGCGCGGGTGCCCTT	NCBI36
NG_012114.1:g.8021_8055delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC MANE Select	ENSP00000265340.6:n.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCT...
ENST00000265340.11:c.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC	ENSP00000265340.6:n.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCT...
ENST00000503586.1:c.524+22_524+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC
ENST00000504936.1:n.735+22_735+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC
ENST00000506438.5:c.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC	ENSP00000427542.1:n.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCT...
NM_002653.4:c.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC	NP_002644.4:n.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGG...
NM_002653.5:c.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGGCCGCCTC MANE Select	NP_002644.4:n.402+22_402+56delinsAAGGGCACCCGCGCAGAGGGCTCCCGGG...