Canonical Allele Identifier: CA915945941

Gene: MYPN

Linked Data

• ClinVar Variation Id: 661274
• ClinVar RCV Id: RCV000818659 ; RCV002223253
• dbSNP Id: rs1589608098
• gnomAD v4: 10-68195500-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68195501del , CM000672.2:g.68195501del	GRCh38
NC_000010.10:g.69955258del , CM000672.1:g.69955258del	GRCh37
NC_000010.9:g.69625264del	NCBI36
NG_032118.1:g.94385del , LRG_410:g.94385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354393.7:c.2302del	ENSP00000346369.2:p.Ser768ValfsTer3
ENST00000540630.6:c.3181del	ENSP00000441668.3:p.Ser1061ValfsTer3
ENST00000613327.5:c.3127del	ENSP00000480757.2:p.Ser1043ValfsTer3
ENST00000688812.1:c.*390del	ENSP00000510658.1:n.*390del
ENST00000690544.1:c.*2398del	ENSP00000508989.1:n.*2398del
ENST00000358913.10:c.3127del MANE Select	ENSP00000351790.5:p.Ser1043ValfsTer3
ENST00000354393.6:c.2302del	ENSP00000346369.2:p.Ser768ValfsTer3
ENST00000358913.9:c.3127del	ENSP00000351790.5:p.Ser1043ValfsTer3
ENST00000540630.5:c.3127del	ENSP00000441668.2:p.Ser1043ValfsTer3
ENST00000613327.4:c.2245del	ENSP00000480757.1:p.Ser749ValfsTer3
NM_001256267.1:c.3127del	NP_001243196.1:p.Ser1043ValfsTer3
NM_001256268.1:c.2245del	NP_001243197.1:p.Ser749ValfsTer3
NM_032578.3:c.3127del , LRG_410t1:c.3127del	NP_115967.2:p.Ser1043ValfsTer3
NR_045662.3:n.2554del
NR_045663.3:n.3256del
XM_006718043.2:c.3181del	XP_006718106.1:p.Ser1061ValfsTer3
XM_011540292.1:c.3157del	XP_011538594.1:p.Ser1053ValfsTer3
XM_017016833.1:c.3205del	XP_016872322.1:p.Ser1069ValfsTer3
XM_017016834.2:c.3127del	XP_016872323.1:p.Ser1043ValfsTer3
XM_024448236.1:c.2005del	XP_024304004.1:p.Ser669ValfsTer3
NR_045662.4:n.2664del
NR_045663.4:n.3201del
NM_001256267.2:c.3127del	NP_001243196.1:p.Ser1043ValfsTer3
NM_001256268.2:c.2245del	NP_001243197.1:p.Ser749ValfsTer3
NM_032578.4:c.3127del MANE Select	NP_115967.2:p.Ser1043ValfsTer3