Canonical Allele Identifier: CA918956002

Linked Data

dbSNP Id: rs1565458847

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102790022_102790023del , CM000673.2:g.102790022_102790023del GRCh38
NC_000011.9:g.102660753_102660754del , CM000673.1:g.102660753_102660754del GRCh37
NC_000011.8:g.102165963_102165964del NCBI36
NG_011740.1:g.13213_13214del
NG_011740.2:g.13213_13214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000315274.7:c.*389_*390del (MMP1) MANE Select ENSP00000322788.6:n.*389_*390del
ENST00000680179.1:n.977_978del (MMP1)
ENST00000681445.1:n.973_974del (MMP1)
ENST00000681643.1:n.999_1000del (MMP1)
ENST00000315274.6:c.*389_*390del (MMP1) ENSP00000322788.6:n.*389_*390del
ENST00000371455.7:n.325-8002_325-8001del (WTAPP1)
ENST00000525739.6:n.390-3123_390-3122del (WTAPP1)
ENST00000544704.1:n.344+5958_344+5959del (WTAPP1)
NM_001145938.1:c.*389_*390del (MMP1) NP_001139410.1:n.*389_*390del
NM_002421.3:c.*389_*390del (MMP1) NP_002412.1:n.*389_*390del
NR_038390.1:n.390-3123_390-3122del (WTAPP1)
NM_002421.4:c.*389_*390del (MMP1) MANE Select NP_002412.1:n.*389_*390del
NM_001145938.2:c.*389_*390del (MMP1) NP_001139410.1:n.*389_*390del