Canonical Allele Identifier: CA2631961866

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159433-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159434_16159435insGC , CM000678.2:g.16159434_16159435insGC	GRCh38
NC_000016.9:g.16253291_16253292insGC , CM000678.1:g.16253291_16253292insGC	GRCh37
NC_000016.8:g.16160792_16160793insGC	NCBI36
NG_007558.2:g.69038_69039insCG
NG_007558.3:g.69184_69185insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+48_3735+49insCG	ENSP00000483331.2:n.3735+48_3735+49insCG
ENST00000205557.12:c.3735+48_3735+49insCG MANE Select	ENSP00000205557.7:n.3735+48_3735+49insCG
ENST00000640696.1:c.549+48_549+49insCG	ENSP00000492197.1:n.549+48_549+49insCG
ENST00000205557.11:c.3735+48_3735+49insCG	ENSP00000205557.7:n.3735+48_3735+49insCG
ENST00000456970.6:c.3360+48_3360+49insCG	ENSP00000405002.2:n.3360+48_3360+49insCG
ENST00000622290.4:c.*944+48_*944+49insCG	ENSP00000483331.1:n.*944+48_*944+49insCG
NM_001171.5:c.3735+48_3735+49insCG	NP_001162.4:n.3735+48_3735+49insCG
XM_011522479.1:c.3702+48_3702+49insCG	XP_011520781.1:n.3702+48_3702+49insCG
XM_011522480.1:c.3393+48_3393+49insCG	XP_011520782.1:n.3393+48_3393+49insCG
XM_011522481.1:c.3393+48_3393+49insCG	XP_011520783.1:n.3393+48_3393+49insCG
XR_932836.1:n.3970+48_3970+49insCG
XR_932837.1:n.3771+48_3771+49insCG
XR_932838.1:n.3771+48_3771+49insCG
XR_933134.1:n.539-347_539-346insGC
NM_001351800.1:c.3393+48_3393+49insCG	NP_001338729.1:n.3393+48_3393+49insCG
NR_147784.1:n.3397+48_3397+49insCG
XM_011522479.2:c.3702+48_3702+49insCG	XP_011520781.1:n.3702+48_3702+49insCG
XM_011522481.3:c.3393+48_3393+49insCG	XP_011520783.1:n.3393+48_3393+49insCG
XM_017023212.1:c.3567+48_3567+49insCG	XP_016878701.1:n.3567+48_3567+49insCG
XM_024450261.1:c.3771+48_3771+49insCG	XP_024306029.1:n.3771+48_3771+49insCG
XR_932836.2:n.3916+48_3916+49insCG
XR_932837.3:n.3716+48_3716+49insCG
XR_932838.3:n.3716+48_3716+49insCG
NM_001171.6:c.3735+48_3735+49insCG MANE Select	NP_001162.5:n.3735+48_3735+49insCG