Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311988_227312011delinsTACAAAGTTTCAATTTGTTTCCCC , CM000664.2:g.227311988_227312011delinsTACAAAGTTTCAATTTGTTTCCCC	GRCh38
NC_000002.11:g.228176704_228176727delinsTACAAAGTTTCAATTTGTTTCCCC , CM000664.1:g.228176704_228176727delinsTACAAAGTTTCAATTTGTTTCCCC	GRCh37
NC_000002.10:g.227884948_227884971delinsTACAAAGTTTCAATTTGTTTCCCC	NCBI36
NG_011591.1:g.152424_152447delinsTACAAAGTTTCAATTTGTTTCCCC , LRG_230:g.152424_152447delinsTACAAAGTTTCAATTTGTTTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2389_2412delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000682257.1:n.353_376delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000682970.1:n.429_452delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000683077.1:n.2070_2093delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000684413.1:n.2698_2721delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000684724.1:n.552_575delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000396578.8:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3) MANE Select	ENSP00000379823.3:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
ENST00000396578.7:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	ENSP00000379823.3:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
NM_000091.4:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC , LRG_230t1:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	NP_000082.2:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
NR_102371.1:n.48-6356_48-6333delinsGGGGAAACAAATTGAAACTTTGTA (MFF-DT)
XM_005246276.2:c.44_67delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_005246333.1:n.44_67delinsTACAAAGTTTCAATTTGTTTCCCC
XM_005246277.2:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_005246334.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XM_011510556.1:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_011508858.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XR_241280.2:n.5091_5114delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
XM_005246277.3:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_005246334.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XM_011510556.2:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_011508858.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XR_241280.3:n.5091_5114delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
NM_000091.5:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3) MANE Select	NP_000082.2:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC

HGVS	Amino-acid Change
ENST00000471862.2:n.2389_2412delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000682257.1:n.353_376delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000682970.1:n.429_452delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000683077.1:n.2070_2093delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000684413.1:n.2698_2721delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000684724.1:n.552_575delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
ENST00000396578.8:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3) MANE Select	ENSP00000379823.3:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
ENST00000396578.7:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	ENSP00000379823.3:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
NM_000091.4:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC , LRG_230t1:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	NP_000082.2:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
NR_102371.1:n.48-6356_48-6333delinsGGGGAAACAAATTGAAACTTTGTA (MFF-DT)
XM_005246276.2:c.44_67delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_005246333.1:n.44_67delinsTACAAAGTTTCAATTTGTTTCCCC
XM_005246277.2:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_005246334.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XM_011510556.1:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_011508858.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XR_241280.2:n.5091_5114delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
XM_005246277.3:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_005246334.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XM_011510556.2:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)	XP_011508858.1:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC
XR_241280.3:n.5091_5114delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3)
NM_000091.5:c.118_141delinsTACAAAGTTTCAATTTGTTTCCCC (COL4A3) MANE Select	NP_000082.2:n.118_141delinsTACAAAGTTTCAATTTGTTTCCCC