Canonical Allele Identifier: CA695032411

Gene: COL4A1

Linked Data

• dbSNP Id: rs1186289780
• MyVariant Identifiers: chr13:g.110822390_110822391insGGAGGGAGGAAGGAGG (hg19) ; chr13:g.110170043_110170044insGGAGGGAGGAAGGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170054_110170069dup , CM000675.2:g.110170054_110170069dup	GRCh38
NC_000013.10:g.110822401_110822416dup , CM000675.1:g.110822401_110822416dup	GRCh37
NC_000013.9:g.109620402_109620417dup	NCBI36
NG_011544.2:g.142091_142106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-297_3743-282dup MANE Select	ENSP00000364979.4:n.3743-297_3743-282dup
ENST00000375820.8:c.3743-297_3743-282dup	ENSP00000364979.4:n.3743-297_3743-282dup
NM_001845.5:c.3743-297_3743-282dup	NP_001836.3:n.3743-297_3743-282dup
XM_011521048.1:c.3551-297_3551-282dup	XP_011519350.1:n.3551-297_3551-282dup
XM_011521048.2:c.3551-297_3551-282dup	XP_011519350.1:n.3551-297_3551-282dup
NM_001845.6:c.3743-297_3743-282dup MANE Select	NP_001836.3:n.3743-297_3743-282dup