Canonical Allele Identifier: CA566704775

Gene: PI16

Linked Data

• dbSNP Id: rs1470335446
• gnomAD v2: 6-36922593-G-GGCC
• gnomAD v4: 6-36954817-G-GGCC
• MyVariant Identifiers: chr6:g.36922593_36922594insGCC (hg19) ; chr6:g.36954817_36954818insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36954818_36954820dup , CM000668.2:g.36954818_36954820dup	GRCh38
NC_000006.11:g.36922594_36922596dup , CM000668.1:g.36922594_36922596dup	GRCh37
NC_000006.10:g.37030572_37030574dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373674.4:c.58_60dup MANE Select	ENSP00000362778.3:p.Ala20_Thr21insAla
ENST00000647861.1:c.58_60dup	ENSP00000497550.1:p.Ala20_Thr21insAla
ENST00000373674.3:c.58_60dup	ENSP00000362778.3:p.Ala20_Thr21insAla
ENST00000611814.4:c.58_60dup	ENSP00000478888.1:p.Ala20_Thr21insAla
NM_001199159.1:c.58_60dup	NP_001186088.1:p.Ala20_Thr21insAla
NM_153370.2:c.58_60dup	NP_699201.2:p.Ala20_Thr21insAla
XM_005248917.1:c.58_60dup	XP_005248974.1:p.Ala20_Thr21insAla
XM_011514375.1:c.58_60dup	XP_011512677.1:p.Ala20_Thr21insAla
XM_005248917.3:c.58_60dup	XP_005248974.1:p.Ala20_Thr21insAla
XM_011514375.3:c.58_60dup	XP_011512677.1:p.Ala20_Thr21insAla
XM_017010430.2:c.58_60dup	XP_016865919.1:p.Ala20_Thr21insAla
NM_153370.3:c.58_60dup MANE Select	NP_699201.2:p.Ala20_Thr21insAla
NM_001199159.2:c.58_60dup	NP_001186088.1:p.Ala20_Thr21insAla