Canonical Allele Identifier: CA2210135177

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150726_16150727delinsTC , CM000678.2:g.16150726_16150727delinsTC	GRCh38
NC_000016.9:g.16244583_16244584delinsTC , CM000678.1:g.16244583_16244584delinsTC	GRCh37
NC_000016.8:g.16152084_16152085delinsTC	NCBI36
NG_007558.2:g.77745_77746delinsGA
NG_007558.3:g.77891_77892delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*426_*427delinsGA	ENSP00000483331.2:n.*426_*427delinsGA
ENST00000205557.12:c.4254_4255delinsGA MANE Select	ENSP00000205557.7:p.Arg1418=
ENST00000640696.1:c.1068_1069delinsGA	ENSP00000492197.1:p.Arg356=
ENST00000205557.11:c.4254_4255delinsGA	ENSP00000205557.7:p.Arg1418=
ENST00000456970.6:c.3879_3880delinsGA	ENSP00000405002.2:n.3879_3880delinsGA
ENST00000576204.5:n.1117_1118delinsGA
ENST00000622290.4:c.*1463_*1464delinsGA	ENSP00000483331.1:n.*1463_*1464delinsGA
NM_001171.5:c.4254_4255delinsGA	NP_001162.4:p.Arg1418=
XM_011522479.1:c.4221_4222delinsGA	XP_011520781.1:p.Arg1407=
XM_011522480.1:c.3912_3913delinsGA	XP_011520782.1:p.Arg1304=
XM_011522481.1:c.3912_3913delinsGA	XP_011520783.1:p.Arg1304=
XR_933134.1:n.538+6436_538+6437delinsTC
NM_001351800.1:c.3912_3913delinsGA	NP_001338729.1:p.Arg1304=
NR_147784.1:n.3916_3917delinsGA
XM_011522479.2:c.4221_4222delinsGA	XP_011520781.1:p.Arg1407=
XM_011522481.3:c.3912_3913delinsGA	XP_011520783.1:p.Arg1304=
XM_017023212.1:c.4086_4087delinsGA	XP_016878701.1:p.Arg1362=
XM_024450261.1:c.4290_4291delinsGA	XP_024306029.1:p.Arg1430=
NM_001171.6:c.4254_4255delinsGA MANE Select	NP_001162.5:p.Arg1418=