Canonical Allele Identifier: CA695032322

Gene: COL4A1

Linked Data

• dbSNP Id: rs150774157
• gnomAD v3: 13-110169929-G-GAGGGAGGGAGGA
• gnomAD v4: 13-110169929-G-GAGGGAGGGAGGA
• MyVariant Identifiers: chr13:g.110822276_110822277insAGGGAGGGAGGA (hg19) ; chr13:g.110169929_110169930insAGGGAGGGAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGGAGG	NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTCCCT

Transcript Alleles

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