Canonical Allele Identifier: CA2647810885

Gene: ECM1

Linked Data

• gnomAD v4: 1-150510776-C-CCTTTCTCCTCCACCCCAGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150510782_150510802dup , CM000663.2:g.150510782_150510802dup	GRCh38
NC_000001.10:g.150483258_150483278dup , CM000663.1:g.150483258_150483278dup	GRCh37
NC_000001.9:g.148749882_148749902dup	NCBI36
NG_012062.1:g.7772_7792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369047.9:c.386-94_386-74dup MANE Select	ENSP00000358043.4:n.386-94_386-74dup
ENST00000346569.6:c.386-94_386-74dup	ENSP00000271630.6:n.386-94_386-74dup
ENST00000369047.8:c.386-94_386-74dup	ENSP00000358043.4:n.386-94_386-74dup
ENST00000369049.8:c.467-94_467-74dup	ENSP00000358045.4:n.467-94_467-74dup
ENST00000470432.5:n.1391_1411dup
ENST00000498579.5:n.673-94_673-74dup
NM_001202858.1:c.467-94_467-74dup	NP_001189787.1:n.467-94_467-74dup
NM_004425.3:c.386-94_386-74dup	NP_004416.2:n.386-94_386-74dup
NM_022664.2:c.386-94_386-74dup	NP_073155.2:n.386-94_386-74dup
XR_922130.1:n.73_93dup
NM_004425.4:c.386-94_386-74dup MANE Select	NP_004416.2:n.386-94_386-74dup
NM_001202858.2:c.467-94_467-74dup	NP_001189787.1:n.467-94_467-74dup
NM_022664.3:c.386-94_386-74dup	NP_073155.2:n.386-94_386-74dup