Canonical Allele Identifier: CA2615724474

Gene: MMP1 WTAPP1

Linked Data

• gnomAD v4: 11-102790026-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102790029_102790031del , CM000673.2:g.102790029_102790031del	GRCh38
NC_000011.9:g.102660760_102660762del , CM000673.1:g.102660760_102660762del	GRCh37
NC_000011.8:g.102165970_102165972del	NCBI36
NG_011740.1:g.13207_13209del
NG_011740.2:g.13207_13209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315274.7:c.*383_*385del (MMP1) MANE Select	ENSP00000322788.6:n.*383_*385del
ENST00000680179.1:n.971_973del (MMP1)
ENST00000681445.1:n.967_969del (MMP1)
ENST00000681643.1:n.993_995del (MMP1)
ENST00000315274.6:c.*383_*385del (MMP1)	ENSP00000322788.6:n.*383_*385del
ENST00000371455.7:n.325-7995_325-7993del (WTAPP1)
ENST00000525739.6:n.390-3116_390-3114del (WTAPP1)
ENST00000544704.1:n.344+5965_344+5967del (WTAPP1)
NM_001145938.1:c.*383_*385del (MMP1)	NP_001139410.1:n.*383_*385del
NM_002421.3:c.*383_*385del (MMP1)	NP_002412.1:n.*383_*385del
NR_038390.1:n.390-3116_390-3114del (WTAPP1)
NM_002421.4:c.*383_*385del (MMP1) MANE Select	NP_002412.1:n.*383_*385del
NM_001145938.2:c.*383_*385del (MMP1)	NP_001139410.1:n.*383_*385del