Canonical Allele Identifier: CA612622958

Gene: COL4A1

Linked Data

• gnomAD v2: 13-110822291-G-GAAGGGA
• gnomAD v3: 13-110169944-G-GAAGGGA
• gnomAD v4: 13-110169944-G-GAAGGGA
• MyVariant Identifiers: chr13:g.110822291_110822292insAAGGGA (hg19) ; chr13:g.110169944_110169945insAAGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169944_110169945insAAGGGA , CM000675.2:g.110169944_110169945insAAGGGA	GRCh38
NC_000013.10:g.110822291_110822292insAAGGGA , CM000675.1:g.110822291_110822292insAAGGGA	GRCh37
NC_000013.9:g.109620292_109620293insAAGGGA	NCBI36
NG_011544.2:g.142205_142206insTCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-183_3743-182insTCCCTT MANE Select	ENSP00000364979.4:n.3743-183_3743-182insTCCCTT
ENST00000375820.8:c.3743-183_3743-182insTCCCTT	ENSP00000364979.4:n.3743-183_3743-182insTCCCTT
NM_001845.5:c.3743-183_3743-182insTCCCTT	NP_001836.3:n.3743-183_3743-182insTCCCTT
XM_011521048.1:c.3551-183_3551-182insTCCCTT	XP_011519350.1:n.3551-183_3551-182insTCCCTT
XM_011521048.2:c.3551-183_3551-182insTCCCTT	XP_011519350.1:n.3551-183_3551-182insTCCCTT
NM_001845.6:c.3743-183_3743-182insTCCCTT MANE Select	NP_001836.3:n.3743-183_3743-182insTCCCTT