Canonical Allele Identifier: CA2118733219

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170039_110170050delinsGGGAAGGAGGGA , CM000675.2:g.110170039_110170050delinsGGGAAGGAGGGA	GRCh38
NC_000013.10:g.110822386_110822397delinsGGGAAGGAGGGA , CM000675.1:g.110822386_110822397delinsGGGAAGGAGGGA	GRCh37
NC_000013.9:g.109620387_109620398delinsGGGAAGGAGGGA	NCBI36
NG_011544.2:g.142100_142111delinsTCCCTCCTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-288_3743-277delinsTCCCTCCTTCCC MANE Select	ENSP00000364979.4:n.3743-288_3743-277delinsTCCCTCCTTCCC
ENST00000375820.8:c.3743-288_3743-277delinsTCCCTCCTTCCC	ENSP00000364979.4:n.3743-288_3743-277delinsTCCCTCCTTCCC
NM_001845.5:c.3743-288_3743-277delinsTCCCTCCTTCCC	NP_001836.3:n.3743-288_3743-277delinsTCCCTCCTTCCC
XM_011521048.1:c.3551-288_3551-277delinsTCCCTCCTTCCC	XP_011519350.1:n.3551-288_3551-277delinsTCCCTCCTTCCC
XM_011521048.2:c.3551-288_3551-277delinsTCCCTCCTTCCC	XP_011519350.1:n.3551-288_3551-277delinsTCCCTCCTTCCC
NM_001845.6:c.3743-288_3743-277delinsTCCCTCCTTCCC MANE Select	NP_001836.3:n.3743-288_3743-277delinsTCCCTCCTTCCC