Canonical Allele Identifier: CA1081831324

Gene: PITX1

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028558_135028559insGTTTTTTTTTT , CM000667.2:g.135028558_135028559insGTTTTTTTTTT	GRCh38
NC_000005.9:g.134364248_134364249insGTTTTTTTTTT , CM000667.1:g.134364248_134364249insGTTTTTTTTTT	GRCh37
NC_000005.8:g.134392147_134392148insGTTTTTTTTTT	NCBI36
NG_012114.1:g.10725_10726insACAAAAAAAAA

Transcript Alleles

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