Canonical Allele Identifier: CA645512747

Gene: ALPL

Linked Data

• COSMIC: COSM309073

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561134_21561141del , CM000663.2:g.21561134_21561141del	GRCh38
NC_000001.10:g.21887627_21887634del , CM000663.1:g.21887627_21887634del	GRCh37
NC_000001.9:g.21760214_21760221del	NCBI36
NG_008940.1:g.56770_56777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.219_226del MANE Select	ENSP00000363973.3:p.Lys74AlafsTer?
ENST00000374832.5:c.219_226del	ENSP00000363965.1:p.Lys74AlafsTer?
ENST00000374840.7:c.219_226del	ENSP00000363973.3:p.Lys74AlafsTer?
ENST00000468526.1:n.279_286del
ENST00000539907.5:c.66+389_66+396del	ENSP00000437674.1:n.66+389_66+396del
ENST00000540617.5:c.54_61del	ENSP00000442672.1:p.Lys19AlafsTer?
NM_000478.4:c.219_226del	NP_000469.3:p.Lys74AlafsTer?
NM_001127501.2:c.54_61del	NP_001120973.2:p.Lys19AlafsTer?
NM_001177520.1:c.66+389_66+396del	NP_001170991.1:n.66+389_66+396del
XM_005245818.1:c.219_226del	XP_005245875.1:p.Lys74AlafsTer?
XM_005245820.2:c.219_226del	XP_005245877.1:p.Lys74AlafsTer?
XM_006710546.1:c.219_226del	XP_006710609.1:p.Lys74AlafsTer?
NM_000478.5:c.219_226del	NP_000469.3:p.Lys74AlafsTer?
NM_001127501.3:c.54_61del	NP_001120973.2:p.Lys19AlafsTer?
NM_001177520.2:c.66+389_66+396del	NP_001170991.1:n.66+389_66+396del
XM_006710546.3:c.219_226del	XP_006710609.1:p.Lys74AlafsTer?
XM_017000903.1:c.67-4_70del
NM_000478.6:c.219_226del MANE Select	NP_000469.3:p.Lys74AlafsTer?
NM_001127501.4:c.54_61del	NP_001120973.2:p.Lys19AlafsTer?
NM_001177520.3:c.66+389_66+396del	NP_001170991.1:n.66+389_66+396del
NM_001369803.2:c.219_226del	NP_001356732.1:p.Lys74AlafsTer?
NM_001369804.2:c.219_226del	NP_001356733.1:p.Lys74AlafsTer?
NM_001369805.2:c.219_226del	NP_001356734.1:p.Lys74AlafsTer?