Canonical Allele Identifier: CA960159934

Gene: COL4A1

Linked Data

• dbSNP Id: rs150774157
• gnomAD v3: 13-110169929-G-GAGGGAGGGAGGAAGGGAGGAAGGGAGGA
• gnomAD v4: 13-110169929-G-GAGGGAGGGAGGAAGGGAGGAAGGGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGAGGAAGGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGAGGAAGGGAGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGAGGAAGGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGAGGAAGGGAGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGAGGAAGGGAGGGAGG	NCBI36
NG_011544.2:g.142220_142221insTCCTCCCTTCCTCCCTTCCTCCCTCCCT

Transcript Alleles

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