Canonical Allele Identifier: CA1087927663

Gene: PI16

Linked Data

• dbSNP Id: rs1763158406
• gnomAD v3: 6-36954752-C-CTGGCCACCATGCACGGCTCCTGCAGTTTCCTGATGCTTCTGCTGCCGCTACTGCTACTGCTGG
• gnomAD v4: 6-36954752-C-CTGGCCACCATGCACGGCTCCTGCAGTTTCCTGATGCTTCTGCTGCCGCTACTGCTACTGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.36954762_36954824dup , CM000668.2:g.36954762_36954824dup	GRCh38
NC_000006.11:g.36922538_36922600dup , CM000668.1:g.36922538_36922600dup	GRCh37
NC_000006.10:g.37030516_37030578dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373674.4:c.2_64dup MANE Select	ENSP00000362778.3:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMet...
ENST00000647861.1:c.2_64dup	ENSP00000497550.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMet...
ENST00000373674.3:c.2_64dup	ENSP00000362778.3:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMet...
ENST00000611814.4:c.2_64dup	ENSP00000478888.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMet...
NM_001199159.1:c.2_64dup	NP_001186088.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...
NM_153370.2:c.2_64dup	NP_699201.2:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeuLeu...
XM_005248917.1:c.2_64dup	XP_005248974.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...
XM_011514375.1:c.2_64dup	XP_011512677.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...
XM_005248917.3:c.2_64dup	XP_005248974.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...
XM_011514375.3:c.2_64dup	XP_011512677.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...
XM_017010430.2:c.2_64dup	XP_016865919.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...
NM_153370.3:c.2_64dup MANE Select	NP_699201.2:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeuLeu...
NM_001199159.2:c.2_64dup	NP_001186088.1:p.Thr21_Thr22insMetHisGlySerCysSerPheLeuMetLeu...