Canonical Allele Identifier: CA670870047

Gene: MMP1 WTAPP1

Linked Data

• dbSNP Id: rs1293239473
• gnomAD v3: 11-102790343-TAGAC-T
• gnomAD v4: 11-102790343-TAGAC-T
• MyVariant Identifiers: chr11:g.102661075_102661078del (hg19) ; chr11:g.102790344_102790347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790346_102790349del , CM000673.2:g.102790346_102790349del	GRCh38
NC_000011.9:g.102661077_102661080del , CM000673.1:g.102661077_102661080del	GRCh37
NC_000011.8:g.102166287_102166290del	NCBI36
NG_011740.1:g.12889_12892del
NG_011740.2:g.12889_12892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*65_*68del (MMP1) MANE Select	ENSP00000322788.6:n.*65_*68del
ENST00000680179.1:n.653_656del (MMP1)
ENST00000681445.1:n.649_652del (MMP1)
ENST00000681643.1:n.675_678del (MMP1)
ENST00000315274.6:c.*65_*68del (MMP1)	ENSP00000322788.6:n.*65_*68del
ENST00000371455.7:n.325-7678_325-7675del (WTAPP1)
ENST00000525739.6:n.390-2799_390-2796del (WTAPP1)
ENST00000544704.1:n.344+6282_344+6285del (WTAPP1)
NM_001145938.1:c.*65_*68del (MMP1)	NP_001139410.1:n.*65_*68del
NM_002421.3:c.*65_*68del (MMP1)	NP_002412.1:n.*65_*68del
NR_038390.1:n.390-2799_390-2796del (WTAPP1)
NM_002421.4:c.*65_*68del (MMP1) MANE Select	NP_002412.1:n.*65_*68del
NM_001145938.2:c.*65_*68del (MMP1)	NP_001139410.1:n.*65_*68del