Canonical Allele Identifier: CA695032305

Gene: COL4A1

Linked Data

• dbSNP Id: rs1555302276
• gnomAD v3: 13-110169929-G-GAGGGAGGGAGGGAGGGAGGA
• gnomAD v4: 13-110169929-G-GAGGGAGGGAGGGAGGGAGGA
• MyVariant Identifiers: chr13:g.110822276_110822277insAGGGAGGGAGGGAGGGAGGA (hg19) ; chr13:g.110169929_110169930insAGGGAGGGAGGGAGGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169946_110169947insGGAAGGGAGGGAGGGAGGGA , CM000675.2:g.110169946_110169947insGGAAGGGAGGGAGGGAGGGA	GRCh38
NC_000013.10:g.110822293_110822294insGGAAGGGAGGGAGGGAGGGA , CM000675.1:g.110822293_110822294insGGAAGGGAGGGAGGGAGGGA	GRCh37
NC_000013.9:g.109620294_109620295insGGAAGGGAGGGAGGGAGGGA	NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTCCCTCCCTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT MANE Select	ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT
ENST00000375820.8:c.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT	ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT
NM_001845.5:c.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT	NP_001836.3:n.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT
XM_011521048.1:c.3551-168_3551-167insTCCTCCCTCCCTCCCTCCCT	XP_011519350.1:n.3551-168_3551-167insTCCTCCCTCCCTCCCTCCCT
XM_011521048.2:c.3551-168_3551-167insTCCTCCCTCCCTCCCTCCCT	XP_011519350.1:n.3551-168_3551-167insTCCTCCCTCCCTCCCTCCCT
NM_001845.6:c.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT MANE Select	NP_001836.3:n.3743-168_3743-167insTCCTCCCTCCCTCCCTCCCT