Canonical Allele Identifier: CA595683593
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1449069307
gnomAD v2: 10-105816827-GGGGCACCAGGCTGGCGCT-G
gnomAD v3: 10-104057069-GGGGCACCAGGCTGGCGCT-G
gnomAD v4: 10-104057069-GGGGCACCAGGCTGGCGCT-G
MyVariant Identifiers: chr10:g.105816828_105816845del (hg19) chr10:g.104057070_104057087del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057072_104057089del , CM000672.2:g.104057072_104057089del GRCh38
NC_000010.10:g.105816830_105816847del , CM000672.1:g.105816830_105816847del GRCh37
NC_000010.9:g.105806820_105806837del NCBI36
NG_007069.1:g.33794_33811del

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1353_1370del ENSP00000358748.3:p.Ala452_Pro457del
ENST00000648076.2:c.1353_1370del MANE Select ENSP00000497653.1:p.Ala452_Pro457del
ENST00000650263.1:c.1305_1322del ENSP00000497850.1:p.Ala436_Pro441del
ENST00000353479.9:c.1353_1370del ENSP00000340937.5:p.Ala452_Pro457del
ENST00000369733.7:c.1353_1370del ENSP00000358748.3:p.Ala452_Pro457del
NM_000494.3:c.1353_1370del NP_000485.3:p.Ala452_Pro457del
NM_000494.4:c.1353_1370del MANE Select NP_000485.3:p.Ala452_Pro457del
Search 100 bp 5'
Search 100 bp 3'