Canonical Allele Identifier: CA1077605

Gene: ECM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150511767del , CM000663.2:g.150511767del	GRCh38
NC_000001.10:g.150484243del , CM000663.1:g.150484243del	GRCh37
NC_000001.9:g.148750867del	NCBI36
NG_012062.1:g.8757del

Transcript Alleles

HGVS	Amino-acid Change
NM_004425.4:c.1019del MANE Select	NP_004416.2:p.Gln340ArgfsTer?
ENST00000369047.9:c.1019del MANE Select	ENSP00000358043.4:p.Gln340ArgfsTer?
NM_001202858.1:c.1100del	NP_001189787.1:p.Gln367ArgfsTer?
NM_001202858.2:c.1100del	NP_001189787.1:p.Gln367ArgfsTer?
NM_004425.3:c.1019del	NP_004416.2:p.Gln340ArgfsTer?
NM_022664.2:c.708+569del	NP_073155.2:n.708+569del
NM_022664.3:c.708+569del	NP_073155.2:n.708+569del
ENST00000346569.6:c.708+569del	ENSP00000271630.6:n.708+569del
ENST00000369047.8:c.1019del	ENSP00000358043.4:p.Gln340ArgfsTer?
ENST00000369049.8:c.1100del	ENSP00000358045.4:p.Gln367ArgfsTer?
ENST00000470432.5:n.2376del