Canonical Allele Identifier: CA1089304520

Gene: COL21A1

Linked Data

• gnomAD v3: 6-56345828-C-CTTCTGGTAAAACACATTTTCCTCATTGCTCATGTCTAAACT
• gnomAD v4: 6-56345828-C-CTTCTGGTAAAACACATTTTCCTCATTGCTCATGTCTAAACT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56345834_56345874dup , CM000668.2:g.56345834_56345874dup	GRCh38
NC_000006.11:g.56210632_56210672dup , CM000668.1:g.56210632_56210672dup	GRCh37
NC_000006.10:g.56318591_56318631dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370819.5:c.-39+48102_-39+48142dup	ENSP00000359855.1:n.-39+48102_-39+48142dup
XM_011514924.1:c.-39+48102_-39+48142dup	XP_011513226.1:n.-39+48102_-39+48142dup
NM_001318752.1:c.-39+48102_-39+48142dup	NP_001305681.1:n.-39+48102_-39+48142dup
XM_011514924.2:c.-39+48102_-39+48142dup	XP_011513226.1:n.-39+48102_-39+48142dup
NM_001318752.2:c.-39+48102_-39+48142dup	NP_001305681.1:n.-39+48102_-39+48142dup