Canonical Allele Identifier: CA2615724600

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790117-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790118_102790119del , CM000673.2:g.102790118_102790119del	GRCh38
NC_000011.9:g.102660849_102660850del , CM000673.1:g.102660849_102660850del	GRCh37
NC_000011.8:g.102166059_102166060del	NCBI36
NG_011740.1:g.13117_13118del
NG_011740.2:g.13117_13118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*293_*294del (MMP1) MANE Select	ENSP00000322788.6:n.*293_*294del
ENST00000680179.1:n.881_882del (MMP1)
ENST00000681445.1:n.877_878del (MMP1)
ENST00000681643.1:n.903_904del (MMP1)
ENST00000315274.6:c.*293_*294del (MMP1)	ENSP00000322788.6:n.*293_*294del
ENST00000371455.7:n.325-7906_325-7905del (WTAPP1)
ENST00000525739.6:n.390-3027_390-3026del (WTAPP1)
ENST00000544704.1:n.344+6054_344+6055del (WTAPP1)
NM_001145938.1:c.*293_*294del (MMP1)	NP_001139410.1:n.*293_*294del
NM_002421.3:c.*293_*294del (MMP1)	NP_002412.1:n.*293_*294del
NR_038390.1:n.390-3027_390-3026del (WTAPP1)
NM_002421.4:c.*293_*294del (MMP1) MANE Select	NP_002412.1:n.*293_*294del
NM_001145938.2:c.*293_*294del (MMP1)	NP_001139410.1:n.*293_*294del