Canonical Allele Identifier: CA645373130

Gene: BPTF

Linked Data

• ClinVar Variation Id: 431072
• ClinVar RCV Id: RCV000496129 ; RCV000515336 ; RCV000577907
• dbSNP Id: rs1135401778
• MyVariant Identifiers: chr17:g.65850431del (hg19) ; chr17:g.67854315del (hg38)
• PubMed: PMID:28942966

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67854315del , CM000679.2:g.67854315del	GRCh38
NC_000017.10:g.65850431del , CM000679.1:g.65850431del	GRCh37
NC_000017.9:g.63280893del	NCBI36
NG_052828.1:g.33799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000582467.2:c.989del	ENSP00000463776.2:p.Leu330ArgfsTer28
ENST00000306378.11:c.989del MANE Select	ENSP00000307208.6:p.Leu330ArgfsTer28
ENST00000342579.8:c.572del	ENSP00000343837.4:p.Leu191ArgfsTer28
ENST00000644067.1:c.572del	ENSP00000496182.1:p.Leu191ArgfsTer28
ENST00000306378.10:c.989del	ENSP00000307208.6:p.Leu330ArgfsTer28
ENST00000321892.8:c.989del	ENSP00000315454.4:p.Leu330ArgfsTer28
ENST00000335221.9:c.572del	ENSP00000334351.6:p.Leu191ArgfsTer28
ENST00000424123.7:c.572del	ENSP00000388405.3:p.Leu191ArgfsTer28
ENST00000544778.6:c.989del	ENSP00000440854.2:p.Leu330ArgfsTer28
NM_004459.6:c.989del	NP_004450.3:p.Leu330ArgfsTer28
NM_182641.3:c.989del	NP_872579.2:p.Leu330ArgfsTer28
XM_005257150.2:c.989del	XP_005257207.1:p.Leu330ArgfsTer28
XM_005257151.2:c.989del	XP_005257208.1:p.Leu330ArgfsTer28
XM_005257152.1:c.989del	XP_005257209.1:p.Leu330ArgfsTer28
XM_005257153.2:c.989del	XP_005257210.1:p.Leu330ArgfsTer28
XM_005257154.2:c.989del	XP_005257211.1:p.Leu330ArgfsTer28
XM_005257155.2:c.989del	XP_005257212.1:p.Leu330ArgfsTer28
XM_005257156.2:c.989del	XP_005257213.1:p.Leu330ArgfsTer28
XM_005257157.2:c.989del	XP_005257214.1:p.Leu330ArgfsTer28
XM_005257158.2:c.989del	XP_005257215.1:p.Leu330ArgfsTer28
XM_005257159.1:c.989del	XP_005257216.1:p.Leu330ArgfsTer28
XM_005257160.1:c.989del	XP_005257217.1:p.Leu330ArgfsTer28
XM_005257161.2:c.989del	XP_005257218.1:p.Leu330ArgfsTer28
XM_005257162.2:c.989del	XP_005257219.1:p.Leu330ArgfsTer28
XM_011524520.1:c.989del	XP_011522822.1:p.Leu330ArgfsTer28
XM_011524521.1:c.989del	XP_011522823.1:p.Leu330ArgfsTer28
XM_011524522.1:c.989del	XP_011522824.1:p.Leu330ArgfsTer28
XM_011524523.1:c.989del	XP_011522825.1:p.Leu330ArgfsTer28
XM_011524525.1:c.989del	XP_011522827.1:p.Leu330ArgfsTer28
XM_011524526.1:c.989del	XP_011522828.1:p.Leu330ArgfsTer28
XM_005257150.3:c.989del	XP_005257207.1:p.Leu330ArgfsTer28
XM_005257151.3:c.989del	XP_005257208.1:p.Leu330ArgfsTer28
XM_005257152.3:c.989del	XP_005257209.1:p.Leu330ArgfsTer28
XM_005257153.3:c.989del	XP_005257210.1:p.Leu330ArgfsTer28
XM_005257154.3:c.989del	XP_005257211.1:p.Leu330ArgfsTer28
XM_005257155.3:c.989del	XP_005257212.1:p.Leu330ArgfsTer28
XM_005257156.3:c.989del	XP_005257213.1:p.Leu330ArgfsTer28
XM_005257157.3:c.989del	XP_005257214.1:p.Leu330ArgfsTer28
XM_005257158.3:c.989del	XP_005257215.1:p.Leu330ArgfsTer28
XM_005257159.2:c.989del	XP_005257216.1:p.Leu330ArgfsTer28
XM_005257160.2:c.989del	XP_005257217.1:p.Leu330ArgfsTer28
XM_005257161.3:c.989del	XP_005257218.1:p.Leu330ArgfsTer28
XM_011524520.2:c.989del	XP_011522822.1:p.Leu330ArgfsTer28
XM_011524521.2:c.989del	XP_011522823.1:p.Leu330ArgfsTer28
XM_011524522.2:c.989del	XP_011522824.1:p.Leu330ArgfsTer28
XM_011524523.2:c.989del	XP_011522825.1:p.Leu330ArgfsTer28
XM_011524525.2:c.989del	XP_011522827.1:p.Leu330ArgfsTer28
XM_011524526.2:c.989del	XP_011522828.1:p.Leu330ArgfsTer28
XM_017024353.2:c.989del	XP_016879842.1:p.Leu330ArgfsTer28
XM_024450646.1:c.989del	XP_024306414.1:p.Leu330ArgfsTer28
XM_024450647.1:c.989del	XP_024306415.1:p.Leu330ArgfsTer28
XR_001752449.1:n.1197del
NM_182641.4:c.989del MANE Select	NP_872579.2:p.Leu330ArgfsTer28
NM_004459.7:c.989del	NP_004450.3:p.Leu330ArgfsTer28