Canonical Allele Identifier: CA3268250432
Community Standard Title: NM_000478.6(ALPL):c.874_876delinsACG (p.Pro292Thr)
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21573676_21573678delinsACG , CM000663.2:g.21573676_21573678delinsACG GRCh38
NC_000001.10:g.21900169_21900171delinsACG , CM000663.1:g.21900169_21900171delinsACG GRCh37
NC_000001.9:g.21772756_21772758delinsACG NCBI36
NG_008940.1:g.69312_69314delinsACG

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.874_876delinsACG MANE Select NP_000469.3:p.Pro292Thr
ENST00000374840.8:c.874_876delinsACG MANE Select ENSP00000363973.3:p.Pro292Thr
NM_000478.4:c.874_876delinsACG NP_000469.3:p.Pro292Thr
NM_000478.5:c.874_876delinsACG NP_000469.3:p.Pro292Thr
NM_001127501.2:c.709_711delinsACG NP_001120973.2:p.Pro237Thr
NM_001127501.3:c.709_711delinsACG NP_001120973.2:p.Pro237Thr
NM_001127501.4:c.709_711delinsACG NP_001120973.2:p.Pro237Thr
NM_001177520.1:c.643_645delinsACG NP_001170991.1:p.Pro215Thr
NM_001177520.2:c.643_645delinsACG NP_001170991.1:p.Pro215Thr
NM_001177520.3:c.643_645delinsACG NP_001170991.1:p.Pro215Thr
NM_001369803.2:c.874_876delinsACG NP_001356732.1:p.Pro292Thr
NM_001369804.2:c.874_876delinsACG NP_001356733.1:p.Pro292Thr
NM_001369805.2:c.874_876delinsACG NP_001356734.1:p.Pro292Thr
ENST00000374830.2:c.73-2057_73-2055delinsACG
ENST00000374832.5:c.874_876delinsACG ENSP00000363965.1:p.Pro292Thr
ENST00000374840.7:c.874_876delinsACG ENSP00000363973.3:p.Pro292Thr
ENST00000539907.5:c.643_645delinsACG ENSP00000437674.1:p.Pro215Thr
ENST00000540617.5:c.709_711delinsACG ENSP00000442672.1:p.Pro237Thr
XM_005245818.1:c.874_876delinsACG XP_005245875.1:p.Pro292Thr
XM_005245820.2:c.874_876delinsACG XP_005245877.1:p.Pro292Thr
XM_006710546.1:c.874_876delinsACG XP_006710609.1:p.Pro292Thr
XM_006710546.3:c.874_876delinsACG XP_006710609.1:p.Pro292Thr
XM_017000903.1:c.718_720delinsACG XP_016856392.1:p.Pro240Thr