Canonical Allele Identifier: CA2210152718

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198223_16198224delinsCG , CM000678.2:g.16198223_16198224delinsCG	GRCh38
NC_000016.9:g.16292080_16292081delinsCG , CM000678.1:g.16292080_16292081delinsCG	GRCh37
NC_000016.8:g.16199581_16199582delinsCG	NCBI36
NG_007558.2:g.30248_30249delinsCG
NG_007558.3:g.30394_30395delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1177-42_1177-41delinsCG	ENSP00000507301.1:n.1177-42_1177-41delinsCG
ENST00000622290.5:c.1177-42_1177-41delinsCG	ENSP00000483331.2:n.1177-42_1177-41delinsCG
ENST00000205557.12:c.1177-42_1177-41delinsCG MANE Select	ENSP00000205557.7:n.1177-42_1177-41delinsCG
ENST00000205557.11:c.1177-42_1177-41delinsCG	ENSP00000205557.7:n.1177-42_1177-41delinsCG
ENST00000456970.6:c.1177-42_1177-41delinsCG	ENSP00000405002.2:n.1177-42_1177-41delinsCG
ENST00000574094.5:n.1273-42_1273-41delinsCG
ENST00000622290.4:c.1177-42_1177-41delinsCG	ENSP00000483331.1:n.1177-42_1177-41delinsCG
NM_001171.5:c.1177-42_1177-41delinsCG	NP_001162.4:n.1177-42_1177-41delinsCG
XM_011522479.1:c.1177-42_1177-41delinsCG	XP_011520781.1:n.1177-42_1177-41delinsCG
XM_011522480.1:c.835-42_835-41delinsCG	XP_011520782.1:n.835-42_835-41delinsCG
XM_011522481.1:c.835-42_835-41delinsCG	XP_011520783.1:n.835-42_835-41delinsCG
XM_011522482.1:c.1177-42_1177-41delinsCG	XP_011520784.1:n.1177-42_1177-41delinsCG
XR_932836.1:n.1412-42_1412-41delinsCG
XR_932837.1:n.1413-42_1413-41delinsCG
XR_932838.1:n.1413-42_1413-41delinsCG
NM_001351800.1:c.835-42_835-41delinsCG	NP_001338729.1:n.835-42_835-41delinsCG
NR_147784.1:n.1214-42_1214-41delinsCG
XM_011522479.2:c.1177-42_1177-41delinsCG	XP_011520781.1:n.1177-42_1177-41delinsCG
XM_011522481.3:c.835-42_835-41delinsCG	XP_011520783.1:n.835-42_835-41delinsCG
XM_011522482.3:c.1177-42_1177-41delinsCG	XP_011520784.1:n.1177-42_1177-41delinsCG
XM_017023212.1:c.1177-42_1177-41delinsCG	XP_016878701.1:n.1177-42_1177-41delinsCG
XM_017023214.1:c.1177-42_1177-41delinsCG	XP_016878703.1:n.1177-42_1177-41delinsCG
XM_024450261.1:c.1213-42_1213-41delinsCG	XP_024306029.1:n.1213-42_1213-41delinsCG
XR_932836.2:n.1358-42_1358-41delinsCG
XR_932837.3:n.1358-42_1358-41delinsCG
XR_932838.3:n.1358-42_1358-41delinsCG
NM_001171.6:c.1177-42_1177-41delinsCG MANE Select	NP_001162.5:n.1177-42_1177-41delinsCG