Canonical Allele Identifier: CA612622934

Gene: COL4A1

Linked Data

• dbSNP Id: rs1555302252
• gnomAD v2: 13-110822265-A-AAGGAAGGAGGGAGGG
• gnomAD v3: 13-110169918-A-AAGGAAGGAGGGAGGG
• gnomAD v4: 13-110169918-A-AAGGAAGGAGGGAGGG
• MyVariant Identifiers: chr13:g.110822265_110822266insAGGAAGGAGGGAGGG (hg19) ; chr13:g.110169918_110169919insAGGAAGGAGGGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169926_110169927insGGGAGGGAGGAAGGA , CM000675.2:g.110169926_110169927insGGGAGGGAGGAAGGA	GRCh38
NC_000013.10:g.110822273_110822274insGGGAGGGAGGAAGGA , CM000675.1:g.110822273_110822274insGGGAGGGAGGAAGGA	GRCh37
NC_000013.9:g.109620274_109620275insGGGAGGGAGGAAGGA	NCBI36
NG_011544.2:g.142231_142232insCCCTCCCTCCTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-157_3743-156insCCCTCCCTCCTTCCT MANE Select	ENSP00000364979.4:n.3743-157_3743-156insCCCTCCCTCCTTCCT
ENST00000375820.8:c.3743-157_3743-156insCCCTCCCTCCTTCCT	ENSP00000364979.4:n.3743-157_3743-156insCCCTCCCTCCTTCCT
NM_001845.5:c.3743-157_3743-156insCCCTCCCTCCTTCCT	NP_001836.3:n.3743-157_3743-156insCCCTCCCTCCTTCCT
XM_011521048.1:c.3551-157_3551-156insCCCTCCCTCCTTCCT	XP_011519350.1:n.3551-157_3551-156insCCCTCCCTCCTTCCT
XM_011521048.2:c.3551-157_3551-156insCCCTCCCTCCTTCCT	XP_011519350.1:n.3551-157_3551-156insCCCTCCCTCCTTCCT
NM_001845.6:c.3743-157_3743-156insCCCTCCCTCCTTCCT MANE Select	NP_001836.3:n.3743-157_3743-156insCCCTCCCTCCTTCCT