Canonical Allele Identifier: CA3046160293

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154921_16154924del , CM000678.2:g.16154921_16154924del	GRCh38
NC_000016.9:g.16248778_16248781del , CM000678.1:g.16248778_16248781del	GRCh37
NC_000016.8:g.16156279_16156282del	NCBI36
NG_007558.2:g.73548_73551del
NG_007558.3:g.73694_73697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.853_856del
ENST00000622290.5:c.*162_*165del	ENSP00000483331.2:n.*162_*165del
ENST00000205557.12:c.3990_3993del MANE Select	ENSP00000205557.7:p.Ala1331ThrfsTer27
ENST00000640696.1:c.804_807del	ENSP00000492197.1:p.Ala269ThrfsTer27
ENST00000205557.11:c.3990_3993del	ENSP00000205557.7:p.Ala1331ThrfsTer27
ENST00000456970.6:c.3615_3618del	ENSP00000405002.2:n.3615_3618del
ENST00000576204.5:n.853_856del
ENST00000622290.4:c.*1199_*1202del	ENSP00000483331.1:n.*1199_*1202del
NM_001171.5:c.3990_3993del	NP_001162.4:p.Ala1331ThrfsTer27
XM_011522479.1:c.3957_3960del	XP_011520781.1:p.Ala1320ThrfsTer27
XM_011522480.1:c.3648_3651del	XP_011520782.1:p.Ala1217ThrfsTer27
XM_011522481.1:c.3648_3651del	XP_011520783.1:p.Ala1217ThrfsTer27
XR_933134.1:n.539-4860_539-4857del
NM_001351800.1:c.3648_3651del	NP_001338729.1:p.Ala1217ThrfsTer27
NR_147784.1:n.3652_3655del
XM_011522479.2:c.3957_3960del	XP_011520781.1:p.Ala1320ThrfsTer27
XM_011522481.3:c.3648_3651del	XP_011520783.1:p.Ala1217ThrfsTer27
XM_017023212.1:c.3822_3825del	XP_016878701.1:p.Ala1275ThrfsTer27
XM_024450261.1:c.4026_4029del	XP_024306029.1:p.Ala1343ThrfsTer27
NM_001171.6:c.3990_3993del MANE Select	NP_001162.5:p.Ala1331ThrfsTer27