Canonical Allele Identifier: CA2695223864

Gene: PIEZO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88715688_88715689insTTCCAG , CM000678.2:g.88715688_88715689insTTCCAG	GRCh38
NC_000016.9:g.88782096_88782097insTTCCAG , CM000678.1:g.88782096_88782097insTTCCAG	GRCh37
NC_000016.8:g.87309597_87309598insTTCCAG	NCBI36
NG_042229.1:g.74537_74538insACTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.7487_7488insACTGGA MANE Select	ENSP00000301015.9:p.Glu2496_Glu2497insLeuGlu
ENST00000484567.6:n.2546_2547insACTGGA
ENST00000518793.6:c.319_320insACTGGA
ENST00000301015.13:c.7487_7488insACTGGA	ENSP00000301015.9:p.Glu2496_Glu2497insLeuGlu
ENST00000327397.8:c.1053_1054insACTGGA	ENSP00000333704.7:p.Gly351_Gly352insThrGly
ENST00000419505.5:c.1294_1295insACTGGA	ENSP00000406358.1:n.1294_1295insACTGGA
ENST00000484567.5:n.2123_2124insACTGGA
ENST00000518793.5:c.319_320insACTGGA
ENST00000521877.1:n.451_452insACTGGA
NM_001142864.2:c.7487_7488insACTGGA	NP_001136336.2:p.Glu2496_Glu2497insLeuGlu
NM_001142864.3:c.7487_7488insACTGGA	NP_001136336.2:p.Glu2496_Glu2497insLeuGlu
NM_001142864.4:c.7487_7488insACTGGA MANE Select	NP_001136336.2:p.Glu2496_Glu2497insLeuGlu