Canonical Allele Identifier: CA1081831454

Gene: PITX1

Linked Data

• gnomAD v3: 5-135028581-T-TTGG
• gnomAD v4: 5-135028581-T-TTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028581_135028582insTGG , CM000667.2:g.135028581_135028582insTGG	GRCh38
NC_000005.9:g.134364271_134364272insTGG , CM000667.1:g.134364271_134364272insTGG	GRCh37
NC_000005.8:g.134392170_134392171insTGG	NCBI36
NG_012114.1:g.10693_10694insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*197_*198insCCA MANE Select	ENSP00000265340.6:n.*197_*198insCCA
ENST00000265340.11:c.*197_*198insCCA	ENSP00000265340.6:n.*197_*198insCCA
ENST00000506438.5:c.*197_*198insCCA	ENSP00000427542.1:n.*197_*198insCCA
NM_002653.4:c.*197_*198insCCA	NP_002644.4:n.*197_*198insCCA
NM_002653.5:c.*197_*198insCCA MANE Select	NP_002644.4:n.*197_*198insCCA