Canonical Allele Identifier: CA2634878330

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88732529-G-GGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88732530_88732531insAAG , CM000678.2:g.88732530_88732531insAAG	GRCh38
NC_000016.9:g.88798938_88798939insAAG , CM000678.1:g.88798938_88798939insAAG	GRCh37
NC_000016.8:g.87326439_87326440insAAG	NCBI36
NG_042229.1:g.57691_57692insTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2796_2797insTTC (PIEZO1) MANE Select	ENSP00000301015.9:p.His932_Leu933insPhe
ENST00000301015.13:c.2796_2797insTTC (PIEZO1)	ENSP00000301015.9:p.His932_Leu933insPhe
ENST00000490756.1:n.380_381insTTC (PIEZO1)
NM_001142864.2:c.2796_2797insTTC (PIEZO1)	NP_001136336.2:p.His932_Leu933insPhe
NM_001142864.3:c.2796_2797insTTC (PIEZO1)	NP_001136336.2:p.His932_Leu933insPhe
NR_103774.1:n.269+1082_269+1083insAAG (HSALR1)
NM_001142864.4:c.2796_2797insTTC (PIEZO1) MANE Select	NP_001136336.2:p.His932_Leu933insPhe