Canonical Allele Identifier: CA1584336141

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028548_135028551delinsGCTT , CM000667.2:g.135028548_135028551delinsGCTT	GRCh38
NC_000005.9:g.134364238_134364241delinsGCTT , CM000667.1:g.134364238_134364241delinsGCTT	GRCh37
NC_000005.8:g.134392137_134392140delinsGCTT	NCBI36
NG_012114.1:g.10724_10727delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*228_*231delinsAAGC MANE Select	ENSP00000265340.6:n.*228_*231delinsAAGC
ENST00000265340.11:c.*228_*231delinsAAGC	ENSP00000265340.6:n.*228_*231delinsAAGC
NM_002653.4:c.*228_*231delinsAAGC	NP_002644.4:n.*228_*231delinsAAGC
NM_002653.5:c.*228_*231delinsAAGC MANE Select	NP_002644.4:n.*228_*231delinsAAGC