Canonical Allele Identifier: CA3968064

Gene: NT5DC1 COL10A1

Linked Data

• dbSNP Id: rs1554192883
• ExAC: 6:116441230 G / GGGC
• gnomAD v2: 6-116441230-G-GGGC
• gnomAD v4: 6-116120067-G-GGGC
• MyVariant Identifiers: chr6:g.116441230_116441231insGGC (hg19) ; chr6:g.116120067_116120068insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116120067_116120068insGGC , CM000668.2:g.116120067_116120068insGGC	GRCh38
NC_000006.11:g.116441230_116441231insGGC , CM000668.1:g.116441230_116441231insGGC	GRCh37
NC_000006.10:g.116547923_116547924insGGC	NCBI36
NG_008032.1:g.11066_11067insGCC
NG_021351.1:g.24232_24233insGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000319550.9:c.529+2122_529+2123insGGC (NT5DC1) MANE Select	ENSP00000326858.3:n.529+2122_529+2123insG...
ENST00000651968.1:c.*5_*6insGCC (COL10A1) MANE Select	ENSP00000498802.1:n.*5_*6insGCC
ENST00000243222.8:c.*5_*6insGCC (COL10A1)	ENSP00000243222.4:n.*5_*6insGCC
ENST00000319550.8:c.529+2122_529+2123insGGC (NT5DC1)	ENSP00000326858.3:n.529+2122_529+2123insG...
ENST00000327673.4:c.*5_*6insGCC (COL10A1)	ENSP00000327368.4:n.*5_*6insGCC
ENST00000419791.3:c.529+2122_529+2123insGGC (NT5DC1)	ENSP00000393578.1:n.529+2122_529+2123insG...
ENST00000460749.1:c.27+2122_27+2123insGGC (NT5DC1)
NM_000493.3:c.*5_*6insGCC (COL10A1)	NP_000484.2:n.*5_*6insGCC
NM_152729.2:c.529+2122_529+2123insGGC (NT5DC1)	NP_689942.2:n.529+2122_529+2123insGGC
XM_006715333.2:c.*5_*6insGCC (COL10A1)	XP_006715396.1:n.*5_*6insGCC
XM_006715377.2:c.529+2122_529+2123insGGC (NT5DC1)	XP_006715440.1:n.529+2122_529+2123insGGC
XM_006715378.2:c.529+2122_529+2123insGGC (NT5DC1)	XP_006715441.1:n.529+2122_529+2123insGGC
XM_011535432.1:c.*5_*6insGCC (COL10A1)	XP_011533734.1:n.*5_*6insGCC
XM_011535433.1:c.*5_*6insGCC (COL10A1)	XP_011533735.1:n.*5_*6insGCC
XM_006715333.3:c.*5_*6insGCC (COL10A1)	XP_006715396.1:n.*5_*6insGCC
XM_006715378.3:c.529+2122_529+2123insGGC (NT5DC1)	XP_006715441.1:n.529+2122_529+2123insGGC
XM_011535432.3:c.*5_*6insGCC (COL10A1)	XP_011533734.1:n.*5_*6insGCC
XM_011535433.3:c.*5_*6insGCC (COL10A1)	XP_011533735.1:n.*5_*6insGCC
XM_017010248.1:c.*5_*6insGCC (COL10A1)	XP_016865737.1:n.*5_*6insGCC
NM_000493.4:c.*5_*6insGCC (COL10A1) MANE Select	NP_000484.2:n.*5_*6insGCC
NM_152729.3:c.529+2122_529+2123insGGC (NT5DC1) MANE Select	NP_689942.2:n.529+2122_529+2123insGGC