Canonical Allele Identifier: CA2580061448
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 1710586
ClinVar RCV Id: RCV002291873

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21561095_21561115dup , CM000663.2:g.21561095_21561115dup GRCh38
NC_000001.10:g.21887588_21887608dup , CM000663.1:g.21887588_21887608dup GRCh37
NC_000001.9:g.21760175_21760195dup NCBI36
NG_008940.1:g.56731_56751dup

Transcript Alleles

HGVS Amino-acid change
ENST00000374840.8:c.182-2_200dup
ENST00000374832.5:c.182-2_200dup
ENST00000374840.7:c.182-2_200dup
ENST00000468526.1:n.242-2_260dup
ENST00000539907.5:c.66+350_66+370dup ENSP00000437674.1:n.66+350_66+370dup
ENST00000540617.5:c.17-2_35dup
NM_000478.4:c.182-2_200dup
NM_001127501.2:c.17-2_35dup
NM_001177520.1:c.66+350_66+370dup NP_001170991.1:n.66+350_66+370dup
XM_005245818.1:c.182-2_200dup
XM_005245820.2:c.182-2_200dup
XM_006710546.1:c.182-2_200dup
NM_000478.5:c.182-2_200dup
NM_001127501.3:c.17-2_35dup
NM_001177520.2:c.66+350_66+370dup NP_001170991.1:n.66+350_66+370dup
XM_006710546.3:c.182-2_200dup
XM_017000903.1:c.67-43_67-23dup XP_016856392.1:n.67-43_67-23dup
NM_000478.6:c.182-2_200dup
NM_001127501.4:c.17-2_35dup
NM_001177520.3:c.66+350_66+370dup NP_001170991.1:n.66+350_66+370dup
NM_001369803.2:c.182-2_200dup
NM_001369804.2:c.182-2_200dup
NM_001369805.2:c.182-2_200dup