Canonical Allele Identifier: CA2631958705

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154585-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154589_16154590del , CM000678.2:g.16154589_16154590del	GRCh38
NC_000016.9:g.16248446_16248447del , CM000678.1:g.16248446_16248447del	GRCh37
NC_000016.8:g.16155947_16155948del	NCBI36
NG_007558.2:g.73885_73886del
NG_007558.3:g.74031_74032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+41_*380+42del	ENSP00000483331.2:n.*380+41_*380+42del
ENST00000205557.12:c.4208+41_4208+42del MANE Select	ENSP00000205557.7:n.4208+41_4208+42del
ENST00000640696.1:c.1022+41_1022+42del	ENSP00000492197.1:n.1022+41_1022+42del
ENST00000205557.11:c.4208+41_4208+42del	ENSP00000205557.7:n.4208+41_4208+42del
ENST00000456970.6:c.3833+41_3833+42del	ENSP00000405002.2:n.3833+41_3833+42del
ENST00000576204.5:n.1071+41_1071+42del
ENST00000622290.4:c.*1417+41_*1417+42del	ENSP00000483331.1:n.*1417+41_*1417+42del
NM_001171.5:c.4208+41_4208+42del	NP_001162.4:n.4208+41_4208+42del
XM_011522479.1:c.4175+41_4175+42del	XP_011520781.1:n.4175+41_4175+42del
XM_011522480.1:c.3866+41_3866+42del	XP_011520782.1:n.3866+41_3866+42del
XM_011522481.1:c.3866+41_3866+42del	XP_011520783.1:n.3866+41_3866+42del
XR_933134.1:n.539-5192_539-5191del
NM_001351800.1:c.3866+41_3866+42del	NP_001338729.1:n.3866+41_3866+42del
NR_147784.1:n.3870+41_3870+42del
XM_011522479.2:c.4175+41_4175+42del	XP_011520781.1:n.4175+41_4175+42del
XM_011522481.3:c.3866+41_3866+42del	XP_011520783.1:n.3866+41_3866+42del
XM_017023212.1:c.4040+41_4040+42del	XP_016878701.1:n.4040+41_4040+42del
XM_024450261.1:c.4244+41_4244+42del	XP_024306029.1:n.4244+41_4244+42del
NM_001171.6:c.4208+41_4208+42del MANE Select	NP_001162.5:n.4208+41_4208+42del