Canonical Allele Identifier: CA2729123641

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154194

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169515_110169516insGCAC , CM000675.2:g.110169515_110169516insGCAC	GRCh38
NC_000013.10:g.110821862_110821863insGCAC , CM000675.1:g.110821862_110821863insGCAC	GRCh37
NC_000013.9:g.109619863_109619864insGCAC	NCBI36
NG_011544.2:g.142637_142638insCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+116_3876+117insCGTG MANE Select	ENSP00000364979.4:n.3876+116_3876+117insCGTG
ENST00000650424.1:c.32+116_32+117insCGTG
ENST00000375820.8:c.3876+116_3876+117insCGTG	ENSP00000364979.4:n.3876+116_3876+117insCGTG
NM_001845.5:c.3876+116_3876+117insCGTG	NP_001836.3:n.3876+116_3876+117insCGTG
XM_011521048.1:c.3684+116_3684+117insCGTG	XP_011519350.1:n.3684+116_3684+117insCGTG
XM_011521048.2:c.3684+116_3684+117insCGTG	XP_011519350.1:n.3684+116_3684+117insCGTG
NM_001845.6:c.3876+116_3876+117insCGTG MANE Select	NP_001836.3:n.3876+116_3876+117insCGTG