Canonical Allele Identifier: CA659182180
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1212397548
gnomAD v3: 10-104037688-GCCT-G
gnomAD v4: 10-104037688-GCCT-G
MyVariant Identifiers: chr10:g.105797447_105797449del (hg19) chr10:g.104037689_104037691del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037689_104037691del , CM000672.2:g.104037689_104037691del GRCh38
NC_000010.10:g.105797447_105797449del , CM000672.1:g.105797447_105797449del GRCh37
NC_000010.9:g.105787437_105787439del NCBI36
NG_007069.1:g.53190_53192del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3018_3020del ENSP00000358748.3:p.Gly1007del
ENST00000648076.2:c.3153_3155del MANE Select ENSP00000497653.1:p.Gly1052del
ENST00000353479.9:c.3153_3155del ENSP00000340937.5:p.Gly1052del
ENST00000369733.7:c.3018_3020del ENSP00000358748.3:p.Gly1007del
NM_000494.3:c.3153_3155del NP_000485.3:p.Gly1052del
NM_000494.4:c.3153_3155del MANE Select NP_000485.3:p.Gly1052del
Search 100 bp 5'
Search 100 bp 3'