Canonical Allele Identifier: CA612622923

Gene: COL4A1

Linked Data

• dbSNP Id: rs1566346217
• gnomAD v2: 13-110822261-C-CAGGAAGGAAGGAGGG
• gnomAD v3: 13-110169914-C-CAGGAAGGAAGGAGGG
• gnomAD v4: 13-110169914-C-CAGGAAGGAAGGAGGG
• MyVariant Identifiers: chr13:g.110822265_110822266insAGGAAGGAGGGAGGA (hg19) ; chr13:g.110169918_110169919insAGGAAGGAGGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169926_110169927insGGGAGGAAGGAAGGA , CM000675.2:g.110169926_110169927insGGGAGGAAGGAAGGA	GRCh38
NC_000013.10:g.110822273_110822274insGGGAGGAAGGAAGGA , CM000675.1:g.110822273_110822274insGGGAGGAAGGAAGGA	GRCh37
NC_000013.9:g.109620274_109620275insGGGAGGAAGGAAGGA	NCBI36
NG_011544.2:g.142235_142236insCCCTCCTTCCTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-153_3743-152insCCCTCCTTCCTTCCT MANE Select	ENSP00000364979.4:n.3743-153_3743-152insCCCTCCTTCCTTCCT
ENST00000375820.8:c.3743-153_3743-152insCCCTCCTTCCTTCCT	ENSP00000364979.4:n.3743-153_3743-152insCCCTCCTTCCTTCCT
NM_001845.5:c.3743-153_3743-152insCCCTCCTTCCTTCCT	NP_001836.3:n.3743-153_3743-152insCCCTCCTTCCTTCCT
XM_011521048.1:c.3551-153_3551-152insCCCTCCTTCCTTCCT	XP_011519350.1:n.3551-153_3551-152insCCCTCCTTCCTTCCT
XM_011521048.2:c.3551-153_3551-152insCCCTCCTTCCTTCCT	XP_011519350.1:n.3551-153_3551-152insCCCTCCTTCCTTCCT
NM_001845.6:c.3743-153_3743-152insCCCTCCTTCCTTCCT MANE Select	NP_001836.3:n.3743-153_3743-152insCCCTCCTTCCTTCCT