Canonical Allele Identifier: CA2631969312

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169780-AAGAGGAAGAGTGCGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169786_16169800del , CM000678.2:g.16169786_16169800del	GRCh38
NC_000016.9:g.16263643_16263657del , CM000678.1:g.16263643_16263657del	GRCh37
NC_000016.8:g.16171144_16171158del	NCBI36
NG_007558.2:g.58677_58691del
NG_007558.3:g.58823_58837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2846_2860del	ENSP00000483331.2:p.Tyr949_Leu953del
ENST00000205557.12:c.2846_2860del MANE Select	ENSP00000205557.7:p.Tyr949_Leu953del
ENST00000205557.11:c.2846_2860del	ENSP00000205557.7:p.Tyr949_Leu953del
ENST00000456970.6:c.2671_2685del	ENSP00000405002.2:n.2671_2685del
ENST00000622290.4:c.*55_*69del	ENSP00000483331.1:n.*55_*69del
NM_001171.5:c.2846_2860del	NP_001162.4:p.Tyr949_Leu953del
XM_011522479.1:c.2813_2827del	XP_011520781.1:p.Tyr938_Leu942del
XM_011522480.1:c.2504_2518del	XP_011520782.1:p.Tyr835_Leu839del
XM_011522481.1:c.2504_2518del	XP_011520783.1:p.Tyr835_Leu839del
XR_932836.1:n.3081_3095del
XR_932837.1:n.3082_3096del
XR_932838.1:n.3082_3096del
NM_001351800.1:c.2504_2518del	NP_001338729.1:p.Tyr835_Leu839del
NR_147784.1:n.2708_2722del
XM_011522479.2:c.2813_2827del	XP_011520781.1:p.Tyr938_Leu942del
XM_011522481.3:c.2504_2518del	XP_011520783.1:p.Tyr835_Leu839del
XM_017023212.1:c.2678_2692del	XP_016878701.1:p.Tyr893_Leu897del
XM_017023214.1:c.2846_2860del	XP_016878703.1:p.Tyr949_Leu953del
XM_024450261.1:c.2882_2896del	XP_024306029.1:p.Tyr961_Leu965del
XR_932836.2:n.3027_3041del
XR_932837.3:n.3027_3041del
XR_932838.3:n.3027_3041del
NM_001171.6:c.2846_2860del MANE Select	NP_001162.5:p.Tyr949_Leu953del