Canonical Allele Identifier: CA1081831308

Gene: PITX1

Linked Data

• gnomAD v3: 5-135028549-C-CTTTTTGT
• gnomAD v4: 5-135028549-C-CTTTTTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028554_135028555insGTTTTTT , CM000667.2:g.135028554_135028555insGTTTTTT	GRCh38
NC_000005.9:g.134364244_134364245insGTTTTTT , CM000667.1:g.134364244_134364245insGTTTTTT	GRCh37
NC_000005.8:g.134392143_134392144insGTTTTTT	NCBI36
NG_012114.1:g.10725_10726insACAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*229_*230insACAAAAA MANE Select	ENSP00000265340.6:n.*229_*230insACAAAAA
ENST00000265340.11:c.*229_*230insACAAAAA	ENSP00000265340.6:n.*229_*230insACAAAAA
NM_002653.4:c.*229_*230insACAAAAA	NP_002644.4:n.*229_*230insACAAAAA
NM_002653.5:c.*229_*230insACAAAAA MANE Select	NP_002644.4:n.*229_*230insACAAAAA