Canonical Allele Identifier: CA2610796483

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104034454-G-GTACCTTCTTCTCTCCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034455_104034456insACCTTCTTCTCTCCCACT , CM000672.2:g.104034455_104034456insACCTTCTTCTCTCCCACT	GRCh38
NC_000010.10:g.105794213_105794214insACCTTCTTCTCTCCCACT , CM000672.1:g.105794213_105794214insACCTTCTTCTCTCCCACT	GRCh37
NC_000010.9:g.105784203_105784204insACCTTCTTCTCTCCCACT	NCBI36
NG_007069.1:g.56426_56427insGTGGGAGAGAAGAAGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3521-121_3521-120insGTGGGAGAGAAGAAGGTA	ENSP00000358748.3:n.3521-121_3521-120insGTGGGAGAGAAGAAGGTA
ENST00000648076.2:c.3767-121_3767-120insGTGGGAGAGAAGAAGGTA MANE Select	ENSP00000497653.1:n.3767-121_3767-120insGTGGGAGAGAAGAAGGTA
ENST00000353479.9:c.3767-121_3767-120insGTGGGAGAGAAGAAGGTA	ENSP00000340937.5:n.3767-121_3767-120insGTGGGAGAGAAGAAGGTA
ENST00000369733.7:c.3521-121_3521-120insGTGGGAGAGAAGAAGGTA	ENSP00000358748.3:n.3521-121_3521-120insGTGGGAGAGAAGAAGGTA
NM_000494.3:c.3767-121_3767-120insGTGGGAGAGAAGAAGGTA	NP_000485.3:n.3767-121_3767-120insGTGGGAGAGAAGAAGGTA
NM_000494.4:c.3767-121_3767-120insGTGGGAGAGAAGAAGGTA MANE Select	NP_000485.3:n.3767-121_3767-120insGTGGGAGAGAAGAAGGTA