Canonical Allele Identifier: CA2118732640

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169564_110169566delinsCAT , CM000675.2:g.110169564_110169566delinsCAT	GRCh38
NC_000013.10:g.110821911_110821913delinsCAT , CM000675.1:g.110821911_110821913delinsCAT	GRCh37
NC_000013.9:g.109619912_109619914delinsCAT	NCBI36
NG_011544.2:g.142584_142586delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+63_3876+65delinsATG MANE Select	ENSP00000364979.4:n.3876+63_3876+65delinsATG
ENST00000650424.1:c.32+63_32+65delinsATG
ENST00000375820.8:c.3876+63_3876+65delinsATG	ENSP00000364979.4:n.3876+63_3876+65delinsATG
NM_001845.5:c.3876+63_3876+65delinsATG	NP_001836.3:n.3876+63_3876+65delinsATG
XM_011521048.1:c.3684+63_3684+65delinsATG	XP_011519350.1:n.3684+63_3684+65delinsATG
XM_011521048.2:c.3684+63_3684+65delinsATG	XP_011519350.1:n.3684+63_3684+65delinsATG
NM_001845.6:c.3876+63_3876+65delinsATG MANE Select	NP_001836.3:n.3876+63_3876+65delinsATG