Canonical Allele Identifier: CA666693

Gene: ALPL

Linked Data

• ClinVar Variation Id: 654922
• ClinVar RCV Id: RCV000810994 ; RCV001001018 ; RCV002279545 ; RCV003330963 ; RCV003467448
• dbSNP Id: rs753338851
• ExAC: 1:21900272 GCTT / G
• gnomAD v2: 1-21900272-GCTT-G
• gnomAD v3: 1-21573779-GCTT-G
• gnomAD v4: 1-21573779-GCTT-G
• MyVariant Identifiers: chr1:g.21900273_21900275del (hg19) ; chr1:g.21573780_21573782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573786_21573788del , CM000663.2:g.21573786_21573788del	GRCh38
NC_000001.10:g.21900279_21900281del , CM000663.1:g.21900279_21900281del	GRCh37
NC_000001.9:g.21772866_21772868del	NCBI36
NG_008940.1:g.69422_69424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.984_986del MANE Select	ENSP00000363973.3:p.Phe328del
ENST00000374830.2:c.73-1947_73-1945del
ENST00000374832.5:c.984_986del	ENSP00000363965.1:p.Phe328del
ENST00000374840.7:c.984_986del	ENSP00000363973.3:p.Phe328del
ENST00000539907.5:c.753_755del	ENSP00000437674.1:p.Phe251del
ENST00000540617.5:c.819_821del	ENSP00000442672.1:p.Phe273del
NM_000478.4:c.984_986del	NP_000469.3:p.Phe328del
NM_001127501.2:c.819_821del	NP_001120973.2:p.Phe273del
NM_001177520.1:c.753_755del	NP_001170991.1:p.Phe251del
XM_005245818.1:c.984_986del	XP_005245875.1:p.Phe328del
XM_005245820.2:c.984_986del	XP_005245877.1:p.Phe328del
XM_006710546.1:c.984_986del	XP_006710609.1:p.Phe328del
NM_000478.5:c.984_986del	NP_000469.3:p.Phe328del
NM_001127501.3:c.819_821del	NP_001120973.2:p.Phe273del
NM_001177520.2:c.753_755del	NP_001170991.1:p.Phe251del
XM_006710546.3:c.984_986del	XP_006710609.1:p.Phe328del
XM_017000903.1:c.828_830del	XP_016856392.1:p.Phe276del
NM_000478.6:c.984_986del MANE Select	NP_000469.3:p.Phe328del
NM_001127501.4:c.819_821del	NP_001120973.2:p.Phe273del
NM_001177520.3:c.753_755del	NP_001170991.1:p.Phe251del
NM_001369803.2:c.984_986del	NP_001356732.1:p.Phe328del
NM_001369804.2:c.984_986del	NP_001356733.1:p.Phe328del
NM_001369805.2:c.984_986del	NP_001356734.1:p.Phe328del